(used for variant description)
(last modified August 6, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_015531.4 in the C2CD3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering C2CD3 transcript NM_015531.4.
(upstream sequence)
. . . . g.47
aaagcgtcctgggtattgtagtgtattggagggaaggcgtcttggcg c.-181
. . . . . . g.107
ccttctcttcgcaccgttttccggagactgttagaggaagagtcgctttttcctgcctcc c.-121
. . . . . . g.167
caggctgcccagcggcgccggttgccggggaacgcaggcgccgtggggagggatggcggg c.-61
. . . . . . g.227
aggatactgcttaggtgctggagacggagttgagctggtgaagaagagctcgggctcatc c.-1
. . . . . | 02 . g.2411
ATGAAACAACGAAAAGGCCAAGGGTCTGGGGGCAGCCGTGGGCGCAAAAAAAGAG | GTTTA c.60
M K Q R K G Q G S G G S R G R K K R G | L p.20
. . . . . . g.2471
AGTGACATTTCTCCATCTACAAGCCTGCCACCTCTGGTTGAAGGCCAGCTACGCTGTTTT c.120
S D I S P S T S L P P L V E G Q L R C F p.40
. . . . . . g.2531
CTAAAACTTACTGTTAATAGAGTCATATGGAAGATTGCAAAGCCTCCCACTTGTGTACTT c.180
L K L T V N R V I W K I A K P P T C V L p.60
. . . . . . g.2591
GTCCGAGTGAGATGGTGGGGAGAAACATCAGATGGAACCCTCTTTTGTCCCAGGGATGCA c.240
V R V R W W G E T S D G T L F C P R D A p.80
. . . . . . g.2651
TTGCAGACTGAACCAAAAGCTGTGAGAACAACTACACGTTACGCTATTCGTTGTGGTCCA c.300
L Q T E P K A V R T T T R Y A I R C G P p.100
. . | 03 . . . . g.9498
AAACAGTTTACCTCTTATCTAACAG | ATATGGCTGTGCTGGTGCTGGAAGTAATCACCAAA c.360
K Q F T S Y L T D | M A V L V L E V I T K p.120
. . . . . . g.9558
CTTGATGGTCTTCCAATTGGTAGAGTTCAGATCAATGGACTAGCTCAACTTTCTCCAACC c.420
L D G L P I G R V Q I N G L A Q L S P T p.140
. . . . . . g.9618
CATCAAATCAATGGATTTTTTACCATTGTTTCATCAACGTCTAAGAAACTTGGAGAACTC c.480
H Q I N G F F T I V S S T S K K L G E L p.160
| 04 . . . . . . g.31248
CAG | GTCTCACTTGCCCTGGAACCTCTGTCAGAAACTTACGACAGCTACCATCCACTTCCT c.540
Q | V S L A L E P L S E T Y D S Y H P L P p.180
. . . . . . g.31308
ACCACTGACATGACAGAAAATGTGCTTTTATCTAAGCAGGGATTCAGAGAGAATACTGAA c.600
T T D M T E N V L L S K Q G F R E N T E p.200
. . . . . . g.31368
CCCAGCAGTACCCAGTTTCAGGTTCCATCAAGGCCTCGCGACATACATACCATCAAAATT c.660
P S S T Q F Q V P S R P R D I H T I K I p.220
. . . . | 05. . g.32065
GATGGAAAAGAGTTAGCAGCCAACAGCAGTAGATCAACCACTCCGAG | GGGAAAAGACCAT c.720
D G K E L A A N S S R S T T P R | G K D H p.240
. . . . . . g.32125
GTATGCTTTGCAGAGAACCCTGATACAATAAAGGATTCTTCCTTTGGACTACAGCACAGT c.780
V C F A E N P D T I K D S S F G L Q H S p.260
. . . . . . g.32185
CTTAATTCAGGACAGAGTTTAGAGTCTGTAACTCTGAAAGGCAGAGCTCCACGGAAGCAG c.840
L N S G Q S L E S V T L K G R A P R K Q p.280
. . . . . . g.32245
ATGTCCCTTCTGAACAGTTCTGAATTCCAGCCTCAAATTAGAACAGTTGCCAAGAGTCAC c.900
M S L L N S S E F Q P Q I R T V A K S H p.300
. . . . . | 06 . g.37467
AGTGACTCATGCATTCTTTCTTCAAACAACCTCCCTACCAAGGATCTTCTTTCAG | CTCTG c.960
S D S C I L S S N N L P T K D L L S A | L p.320
. . . . . . g.37527
TTAGAACAAGGCAATAAACTGCGTAATGCCATGGTGATTTCTGCAATGAAATCAAGCCCA c.1020
L E Q G N K L R N A M V I S A M K S S P p.340
. . . . . . g.37587
GAGACCAGCATGTTGTTGGACCAAGTTCATCCTCCTATTAATGAAGATTCTCTTAGAGCA c.1080
E T S M L L D Q V H P P I N E D S L R A p.360
| 07 . . . . . g.38099
TCAACACA | GATCAGAGCCTTTTCTAGGAATCGGTTTAAAGACCACATTGAAGATCACCTC c.1140
S T Q | I R A F S R N R F K D H I E D H L p.380
. . . . . . g.38159
CTCCCTTCAACTGAGAATACATTTTGGAGACATGACACAAAAGCTGATACCAGAGCTATA c.1200
L P S T E N T F W R H D T K A D T R A I p.400
. | 08. . . . . g.47927
CAGCTGCTATTAGGCAG | TGCTGAATTATCCCAAGGCAATTTCTGGGATGGGCTAGGCTCT c.1260
Q L L L G S | A E L S Q G N F W D G L G S p.420
. . . . . . g.47987
CCTCCAGATTCCCCATCTCCTGGGAGTGATGTGTATTGCATCAGTGAGCTGAATGACCCT c.1320
P P D S P S P G S D V Y C I S E L N D P p.440
. . . . | 09 . . g.52652
CAGTATGACCAGAGTCTTCTGGAGAATTTATTTTATACAGCACCT | AAATCTGATACCAGC c.1380
Q Y D Q S L L E N L F Y T A P | K S D T S p.460
. . . . . . g.52712
ATCAGTGATTTCCTCAGTGAAGAGGATGATATCGTCCCTTCTAAAAAAATAAGCCAGTCA c.1440
I S D F L S E E D D I V P S K K I S Q S p.480
. . . . . . g.52772
ACAGCTCTTGCCAGATCATCTAAGGTTCTGGAGTCAAGTGATCATAAGCTGAAGAAGAGG c.1500
T A L A R S S K V L E S S D H K L K K R p.500
. . | 10 . . . . g.56466
TCAGCAGGCAAGAGAAATAG | AAATTTGGTTGAACAACAGATGCTCTCAGAAACTCCAGAA c.1560
S A G K R N R | N L V E Q Q M L S E T P E p.520
. . . . . . g.56526
GATGCCCAAACGATGACACTAAGTGTGGATAGACTGGCCCTTTTGGGTAGAACACATTCA c.1620
D A Q T M T L S V D R L A L L G R T H S p.540
. . . . . . g.56586
GTCAGAATCATCATCGAAACCATGGGAGTTCCTCCAGATAGTCCTCAGATGACCCCTGGC c.1680
V R I I I E T M G V P P D S P Q M T P G p.560
. . . . . | 11 . g.57137
AAAAAAAGCTATGCTGGTCCACCACCTAAGGTGACTACAGCAAAAAAGCG | CACTTTCTTT c.1740
K K S Y A G P P P K V T T A K K R | T F F p.580
. . . . . . g.57197
GTAGAATATCACTTTCCTGTGGGCTTTTCGGAAAGCGGATTGGGAAAGACAGCTTTGATC c.1800
V E Y H F P V G F S E S G L G K T A L I p.600
. . . . | 12 . . g.61884
ACTGAGGTTGTTCGACTCGCCTCCAGTAAAATTACAGATGGAA | AGGTGAAGTTCCAGCAG c.1860
T E V V R L A S S K I T D G K | V K F Q Q p.620
. . . . . . g.61944
CGATTTGTGTTTCCAGTACAGTTTGGTGGCCCAATGATAGAGCACTGGTGGAATTCCAAC c.1920
R F V F P V Q F G G P M I E H W W N S N p.640
. . . . | 13 . . g.64544
CTCACTTTCCAAATTTATGTAAAGAAAACTCCACAGAAAAAG | CCAGAAGTCATTGGATCT c.1980
L T F Q I Y V K K T P Q K K | P E V I G S p.660
. . . . . . g.64604
GTGTCACTTTCTTTGCGAGCTGTCATTCAATCAGAGCTGCTTTCTTTCAGTGATCAGCTT c.2040
V S L S L R A V I Q S E L L S F S D Q L p.680
. . . . | 14 . . g.67409
CCAGTGCAACAAGAAAATGGTCAGTCTCCATTTGGCCCCCTCAAG | GTAACCATGGAGCTT c.2100
P V Q Q E N G Q S P F G P L K | V T M E L p.700
. . . . . . g.67469
ATTACAGATAACAAAGATTTCACTGGTATCAATACTAAGTTAAGTGGCAACACCCATTAT c.2160
I T D N K D F T G I N T K L S G N T H Y p.720
. . . . . . g.67529
ACCCCACTTTGTGCTCCTACAAGTCCAAATAAGGCACTACCAGAACTTAACCAAGATATG c.2220
T P L C A P T S P N K A L P E L N Q D M p.740
. . . . . . g.67589
ACCTGTACCAAAAATCCACAAAACTTAAACCAAATTCATGAGGAAACTGCAAAGAAAGCA c.2280
T C T K N P Q N L N Q I H E E T A K K A p.760
. . . . . . g.67649
CAGAACTTGGTGCTCCCCAACCGAAAGTCACCAAGCCCTGTAGCACCACATCCTTCAACC c.2340
Q N L V L P N R K S P S P V A P H P S T p.780
. . . . . . g.67709
TTCGTAGCTACGCCAGCCTCCCATAATTTAGTCAATCAGACAAATGGGACAACAAAAGAG c.2400
F V A T P A S H N L V N Q T N G T T K E p.800
. . . . . . g.67769
AGTGCTTTGCTGTTGCATGTGCTGTTGATGGTGCCAGATGGGAAAGATTTTATTAGTGGA c.2460
S A L L L H V L L M V P D G K D F I S G p.820
. . . . . . g.67829
GAATCTGAGAAACAATCACCATGCAATGTTTATTTAAATTGTAAACTCTTCAGCACAGAG c.2520
E S E K Q S P C N V Y L N C K L F S T E p.840
. . . . . . g.67889
GAAGTCACCAGATCTGTCATCGCATGGGGCACAACACAACCGGTCTTTAACTTTTCTCAG c.2580
E V T R S V I A W G T T Q P V F N F S Q p.860
| 15 . . . . . . g.70403
| GTGATTCCTGTCTCTCTGTCTTCCAAATACCTGGAAAGGCTTAAGAACAATGTGATGGTA c.2640
| V I P V S L S S K Y L E R L K N N V M V p.880
. . . . . . g.70463
ATTGAAACTTGGAATAAGGTGCGGAGCCCAGGACAGGACAAGCTGCTCGGGCTGGTGAAA c.2700
I E T W N K V R S P G Q D K L L G L V K p.900
. . . | 16 . . . g.72792
CTTCCCCTCCACCAGTTTTACATGTCATTCAA | AGATGCTAAGATTTCTCGCCTGCTGCTG c.2760
L P L H Q F Y M S F K | D A K I S R L L L p.920
. . . . . . g.72852
GATGCCCAGTACCCAGTTGTTGCTGTCGACAGCTACATGCCTGTGATTGATGTGTTTTCA c.2820
D A Q Y P V V A V D S Y M P V I D V F S p.940
. . . . . . g.72912
GGCCACCAAAATGGGAGTCTTCGAGTCTTTTTAGCTATGGGTTCTTCAAATCAAATAATG c.2880
G H Q N G S L R V F L A M G S S N Q I M p.960
. . . . . . g.72972
GCACTACAAAGATTAAAGAATGAAGAAGGAACACTCCCTCCCTTCAGCCCTAGGCCAGCC c.2940
A L Q R L K N E E G T L P P F S P R P A p.980
. . . | 17 . . g.75632
CATTTCCTGGACCAGCCAACTGCAGCATCTGTTGCTATG | GCAGAGGACCGAGGAAATGGA c.3000
H F L D Q P T A A S V A M | A E D R G N G p.1000
. . . . . . g.75692
CTGATGGAGCACTGCTTTGAGATCCATATAGAGATGGTTAAAGGGCTAGCCCCTCTTCAG c.3060
L M E H C F E I H I E M V K G L A P L Q p.1020
. . . . . . g.75752
GCAACAGTCTGGGGAGAAGCAGATTGTTATGTCCAGTACTACTTTCCAGTTCAACACTCT c.3120
A T V W G E A D C Y V Q Y Y F P V Q H S p.1040
. . . . | 18 . . g.77040
CAATCCAGTGTGCTGAAAGGACCTGAGTTCCTTGAAAATG | GAATTACTCTGAAGCCCTTC c.3180
Q S S V L K G P E F L E N G | I T L K P F p.1060
. . . . . . g.77100
AGAACTGCAACCACACTCTGTGTTCCAGATCCCATCTTTAATAGTGAACACCATCACTCT c.3240
R T A T T L C V P D P I F N S E H H H S p.1080
. . . . . . g.77160
CTCCTGTTGCCAGCTGAGGTTCCAGTGCAAAGGCTCCTACTAAGTGCTTTCTCTGCACAG c.3300
L L L P A E V P V Q R L L L S A F S A Q p.1100
. . . . | 19 . . g.78447
GGCCTCGTGCCTGGAGGTGGAGTCCAGTTTGAAATCTGGTGCAG | ATACTATTATCCTAAT c.3360
G L V P G G G V Q F E I W C R | Y Y Y P N p.1120
. . . . . . g.78507
GTGAGAGACCAGAAGGTCGCCAAAGGAACCTTGCCATTATCAAGGATCTGTGCTATGGTA c.3420
V R D Q K V A K G T L P L S R I C A M V p.1140
. . . . . . g.78567
ACCACCCAGCATCGTGAGGATGTGGGAATACAGACCTTTAATCTCCCTTTAACCCCCAGG c.3480
T T Q H R E D V G I Q T F N L P L T P R p.1160
. . . | 20. . . g.80106
ATTGAGAACAGGAAAGAATTGAGGAACCAGTCATCAG | GTTTACTGGATGTGGGCCTAAGG c.3540
I E N R K E L R N Q S S G | L L D V G L R p.1180
. . . . . . g.80166
TACAGGCGTAGTCCAAGAACAGCAGAGGGAGTTCTTGCTGCCCGAACTGTTTCCATCTCA c.3600
Y R R S P R T A E G V L A A R T V S I S p.1200
. . . . | 21 . . g.85152
GTCCAGATTATCAGAGCCTGTGGTCTGCAAGCAGCAGCCAA | GGCTTTGGCTGAACGGGAA c.3660
V Q I I R A C G L Q A A A K | A L A E R E p.1220
. . . . . . g.85212
CCCGCTCTACAGTTTAGTGCCACAGTCGGGGTCAATGCCTCTGTCACCACTCATCTCTCC c.3720
P A L Q F S A T V G V N A S V T T H L S p.1240
. . . . . . g.85272
TTCCTGCCCCAGGGAGAACAGCGCCGAACCCACCCTGTGGCCTGTTCTTTCTGCCCTGAG c.3780
F L P Q G E Q R R T H P V A C S F C P E p.1260
. . . . . . g.85332
TTCTCCCATCACGTTGAGTTCACATGTAACTTGGTGACTCAGCACTGTAGTGGAGAGGCC c.3840
F S H H V E F T C N L V T Q H C S G E A p.1280
. . . . . . g.85392
TGTTTCCTAGCAGAGTTGTTGGAGTTTGCAGAAGTTATTTTTGCTGTCTATCATGAAAAT c.3900
C F L A E L L E F A E V I F A V Y H E N p.1300
. | 22 . . . . . g.86099
ACCAAGTCAG | CAAGTGATATAATCAGTATTGAGTCATGCAAAGAGTATCTGCTTGGAGTA c.3960
T K S A | S D I I S I E S C K E Y L L G V p.1320
. . . . | 23 . . g.92322
GTAAAAGTTCCAACAAAAGAGCTGCTGATCAAGAGATCTG | GGATCACAGGATGGTATCCT c.4020
V K V P T K E L L I K R S G | I T G W Y P p.1340
. . . . . . g.92382
ATCATTTTACCAGAAGACGGGGGCCTACCTCATGGCCTGGAGCTCATGCAGAAGATCGTG c.4080
I I L P E D G G L P H G L E L M Q K I V p.1360
. . . . . . g.92442
GGTGGTCTGGAGCTTTCGATTTCCTTCACGCATCGTGGAGATAGAGAACGGGTGTTGGAA c.4140
G G L E L S I S F T H R G D R E R V L E p.1380
. . . . . . g.92502
GCTGCTGAGCATTTGGGCTGGAGCTTTGAGAACAGCCTGAAAGATTTTGTCAGAATGGAT c.4200
A A E H L G W S F E N S L K D F V R M D p.1400
. . . . . . g.92562
GAAGGGGAGCCAGCCACTGTCACCATCTCCACCCCAAGGCTGTGGCTGCCCATCCATTGT c.4260
E G E P A T V T I S T P R L W L P I H C p.1420
. . . . . . g.92622
GTGCTGCTTGCTGGCCACAACCACATTCATAAGAATACATATTGCTACCTTCGCTACAAG c.4320
V L L A G H N H I H K N T Y C Y L R Y K p.1440
. . . . . . g.92682
TTCTATGATCATGAAGCCTTTTGGACCCCTCTCAAGAAGCCTAAGGAATCTGTAAACAAA c.4380
F Y D H E A F W T P L K K P K E S V N K p.1460
. . . . . . g.92742
AAGCAGATTATGGTCACTTTCAAGGCATCCAAAAGAGCAGAAGTCACCAGGGGCCCATCA c.4440
K Q I M V T F K A S K R A E V T R G P S p.1480
. . . . . . g.92802
CTGCTTTGGTACTTCAGGGAGGAGAGGCTAGAGATCCAAGTGTGGCGAGCTTATGGCAAT c.4500
L L W Y F R E E R L E I Q V W R A Y G N p.1500
. . . . . . g.92862
GACAGTGTGGAGAGACCCCATCAGACAGACAGCTGGATTGGCTCAGCCTATGTGGACCTG c.4560
D S V E R P H Q T D S W I G S A Y V D L p.1520
. . . . | 24 . . g.96436
GCCAGACTTGGGGAGAGGTCAGCGAGGACGCTAACTGTCAGTG | GTGTGTATCCTCTGTTT c.4620
A R L G E R S A R T L T V S G | V Y P L F p.1540
. . . . . . g.96496
GGACGAAATGCTTCCAACCTCTCAGGAGCTGCCTTGCGAGTTCATGTGGTTCTTTCCTCT c.4680
G R N A S N L S G A A L R V H V V L S S p.1560
. . . . . . g.96556
CTTTCCTCACACCTTGAGCCCACTCATGAGCTGGACTCCATGGACTGCAGCAGCCACAGT c.4740
L S S H L E P T H E L D S M D C S S H S p.1580
. . . . . . g.96616
GAGTCTGAGCAGCTCCCCAGAAGGAATGATGAGGTCCAGCTCTCTCCACCAGAAGTCATC c.4800
E S E Q L P R R N D E V Q L S P P E V I p.1600
. . . . . . g.96676
TCCTGCCACCAGAAGTCTCCTGCCTCCACCCAGGTCCCCTGCAGCAGCACCACAGCTGAA c.4860
S C H Q K S P A S T Q V P C S S T T A E p.1620
. . . . . . g.96736
GTCCGCCTGACGCAGGAGGGCCCTGCTGATTTGGATGGAACGTTTGCAGTCAGCATCCTA c.4920
V R L T Q E G P A D L D G T F A V S I L p.1640
. . . | 25 . . . g.113504
GTAGAAAGAGCAATGCACTTGAGCTTGAAAG | GGAGCCCCTTGACAGAGCGGAAAGTATCG c.4980
V E R A M H L S L K G | S P L T E R K V S p.1660
. . . . . . g.113564
ATACCCAGTTGTTGTGTATCCTTTGCAACAGCCGATGAGTCATCTCCTGTATACACCCAA c.5040
I P S C C V S F A T A D E S S P V Y T Q p.1680
. . . . . | 26 . g.116358
GTGGTTGAAAACACAGATTCCCCCATCTGGAATTTTCAACAGCAGTCAAG | GCTATCAAAA c.5100
V V E N T D S P I W N F Q Q Q S R | L S K p.1700
. . . . . | 27 . g.121482
GAGCTGCTTCTGGACCCACAACAAACCCTGGTCTTCAAAGTTTGGCATAAAGGAG | ATGAG c.5160
E L L L D P Q Q T L V F K V W H K G D | E p.1720
. . . . . . g.121542
GAGAGGGTGATTGGCTTTGCCTCGGTGGACCTCTCCCCACTTCTCTCTGGCTTCCAGTTT c.5220
E R V I G F A S V D L S P L L S G F Q F p.1740
. . . . . . g.121602
GTCTGTGGCTGGTACAACATCACAGACTTCAGTGGAGAGTGCCAGGGGCAGATAAAAGTT c.5280
V C G W Y N I T D F S G E C Q G Q I K V p.1760
. . . . . . g.121662
GCTGTCTCCCCTTTGGAGAGTTTGATACACTTCAAAGAAGAAAGGCAAGCAAGGCGTGGA c.5340
A V S P L E S L I H F K E E R Q A R R G p.1780
. . | 28 . . . . g.122720
GTGGAGACCTCAAAATCACTG | ATCCCAATATACAGTCCCTTTTCCTTCCCTGCCTCTGAT c.5400
V E T S K S L | I P I Y S P F S F P A S D p.1800
. . . . . . g.122780
ACGTATGCTGCATTCTCCAGCCACATGGCAAGGCAGACCCTAGACCAACTTGCTCATGCC c.5460
T Y A A F S S H M A R Q T L D Q L A H A p.1820
. . . | 29 . . . g.128826
TCCTCAAAGGAGCTTGATTTCTCCTCTCCTGGGAG | AAGTGATACCACAAGAAGCCAAGCA c.5520
S S K E L D F S S P G R | S D T T R S Q A p.1840
. . . . . . g.128886
TCACGCCATGAAGAGCATGTGCAGAACATTCGCCGGTTTCATGAATCCCTGCATCTTCAG c.5580
S R H E E H V Q N I R R F H E S L H L Q p.1860
. . . . . . g.128946
GGAGAGGCACCCTTGCCATGTGATGACAAACTGACCACATCACCTTTGTCCTCCCAAACC c.5640
G E A P L P C D D K L T T S P L S S Q T p.1880
. . | 30 . . . . g.133361
TCCATTCTGACTTCTCTCAG | GAAGAATCTGAGTGAGCTTGATCAGATTCAGAGGTACTTC c.5700
S I L T S L R | K N L S E L D Q I Q R Y F p.1900
. . . . . . g.133421
CGCCAGAAGCTCACCAAGCCTTTCCTACCCCTCAGCCCTCAGACTCAAACGGCCATCTCA c.5760
R Q K L T K P F L P L S P Q T Q T A I S p.1920
. . . . . . g.133481
CAGCACCAGGAGAGCTGTAGGGACCATCTTGGGCCAGGTGCCAGCAGCCTAGACCCTGGG c.5820
Q H Q E S C R D H L G P G A S S L D P G p.1940
. . . . . . g.133541
AGCCAGTGTATCCTGGAGAAATCCAGTAACCTGGTGTTGCAAGTCAGCTCCTTAATCACA c.5880
S Q C I L E K S S N L V L Q V S S L I T p.1960
| 31 . g.136470
G | GTAGTTACTGA c.5892
G | S Y X p.1963
. . . . . . g.136530
agtaactggaagcatgaacatgcccaccaggactcccagctcccaacgattcctgagcat c.*60
. . . . . . g.136590
gagcagatagtctctgaaagcatttccacagatgtatccacaactatagattagattctg c.*120
. . . . g.136633
gtcctctgatattagaataaagtactaaaaattgtaccgcctt c.*163
(downstream sequence)
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