(used for variant description)
(last modified December 27, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001080522.2 in the CC2D2A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013035.1, covering CC2D2A transcript NM_001080522.2.
(upstream sequence)
g.5005
cttag c.-241
. . . . . . g.5065
gaacgggttgctaagctggtgtttttgctccaagacatggctgcagcttcccagggagga c.-181
. . . . . . g.5125
gcccaggggcatctccaacactcagcctttccctccggacccttttaaaagattcaacag c.-121
. . . . . . g.5185
caccgtctctctccacttccatcctagaatgcagaatctgcaaagtgccttttgtaaagt c.-61
. | 02. . . . | 03 . g.11068
ttcttaag | ctatattctaatggatatgggctgacattaacaa | ggacccatcccagccaaa c.-1
. . . | 04 . . g.13879
ATGAATCCCAGGGAAGAAAAAGTAAAAATAATTACAGAG | GAGTTCATTGAAAATGATGAG c.60
M N P R E E K V K I I T E | E F I E N D E p.20
. . . . . . g.13939
GATGCAGACATGGGAAGACAGAATAAGAACTCAAAGGTTCGAAGACAGCCAAGAAAGAAA c.120
D A D M G R Q N K N S K V R R Q P R K K p.40
| 05 . . . . . . g.15896
CAG | CCACCAACTGCTGTCCCCAAGGAAATGGTGTCCGAAAAATCCCACCTTGGCAACCCC c.180
Q | P P T A V P K E M V S E K S H L G N P p.60
. . . . . . g.15956
CAGGAGCCTGTGCAGGAGGAGCCCAAGACCCGCCTCCTGAGTATGACAGTCCGGAGAGGC c.240
Q E P V Q E E P K T R L L S M T V R R G p.80
| 06. . . . . . g.37616
CCACGGA | GCTTACCTCCAATTCCTTCAACTTCCAGAACAGGCTTTGCAGAATTTTCCATG c.300
P R S | L P P I P S T S R T G F A E F S M p.100
. . . | 07 . . . g.37980
AGGGGACGCATGAGGGAGAAATTGCAAGCAGCGAGG | TCCAAAGCAGAAAGTGCATTGCTG c.360
R G R M R E K L Q A A R | S K A E S A L L p.120
. . . . . . g.38040
CAGGAAATCCCCACTCCTCGGCCCAGACGCTTACGAAGTCCCAGTAAGAAAGAATTGGAG c.420
Q E I P T P R P R R L R S P S K K E L E p.140
. | 08 . . . . g.45315
ACTGAATTTGGCACAGAG | CCAGGGAAAGAGGTAGAAAGGACTCAACAAGAAGTTGACTCC c.480
T E F G T E | P G K E V E R T Q Q E V D S p.160
. . . . . . g.45375
CAAAGTTACTCAAGAGTCAAGTTCCATGATTCTGCACGAAAAATCAAGCCTAAACCCCAG c.540
Q S Y S R V K F H D S A R K I K P K P Q p.180
| 09 . . . . . . g.46441
| GTTCCACCTGGCTTCCCTTCTGCAGAAGAGGCCTATAACTTCTTTACTTTCAACTTTGAT c.600
| V P P G F P S A E E A Y N F F T F N F D p.200
. . . . . . g.46501
CCCGAACCAGAAGGATCAGAGGAAAAACCAAAAGCAAGACATAGAGCGGGAACTAATCAA c.660
P E P E G S E E K P K A R H R A G T N Q p.220
. . . . . | 10. g.49844
GAGGAGGAGGAAGGGGAAGAAGAAGAACCACCTGCACAAGGAGGAGGAAAGGAAATG | GAT c.720
E E E E G E E E E P P A Q G G G K E M | D p.240
. . . . . . g.49904
GAGGAAGAACTGCTTAATGGTGATGATGCCGAGGACTTCCTATTGGGCTTAGATCACGTG c.780
E E E L L N G D D A E D F L L G L D H V p.260
. . . . . . g.49964
GCTGACGATTTTGTAGCAGTCAGACCTGCAGATTATGAAAGCATCCATGATCGGCTGCAG c.840
A D D F V A V R P A D Y E S I H D R L Q p.280
. . . . | 11 . . g.51022
ATGGAAAGAGAAATGCTCTTCATACCCAGTAGGCAGACAG | TCCCTACATATAAAAAGCTT c.900
M E R E M L F I P S R Q T V | P T Y K K L p.300
. . . . . . g.51082
CCTGAGAATGTACAGCCCAGGTTCCTGGAAGATGAAGGCCTTTACACCGGGGTAAGACCA c.960
P E N V Q P R F L E D E G L Y T G V R P p.320
. . . . . | 12. g.51762
GAGGTGGCACGCACCAATCAGAACATCATGGAGAACAGATTGCTGATGCAGGACCCC | GAA c.1020
E V A R T N Q N I M E N R L L M Q D P | E p.340
. . . . . . g.51822
AGAAGATGGTTTGGAGATGACGGCAGGATCCTAGCTCTGCCAAACCCCATCAAGCCATTT c.1080
R R W F G D D G R I L A L P N P I K P F p.360
. . . . . . g.51882
CCTTCAAGGCCGCCAGTACTAACACAGGAGCAGAGCATTAAGGCAGAGCTTGAAACACTG c.1140
P S R P P V L T Q E Q S I K A E L E T L p.380
| 13 . . . . . g.62632
TATAAAAAG | GCTGTAAAATACGTTCACAGTAGTCAGCATGTGATCAGATCTGGAGACCCT c.1200
Y K K | A V K Y V H S S Q H V I R S G D P p.400
. . . . . . g.62692
CCTGGAAATTTCCAACTGGACATTGATATTTCAGGGTTAATCTTCACTCATCATCCCTGT c.1260
P G N F Q L D I D I S G L I F T H H P C p.420
. . . . . . g.62752
TTTAGCCGAGAGCATGTTTTGGCAGCCAAGCTGGCCCAGTTATATGACCAGTACCTTGCA c.1320
F S R E H V L A A K L A Q L Y D Q Y L A p.440
. . . | 14 . . g.63775
AGACACCAGAGAAACAAGGCGAAATTTCTTACTGATAAG | CTCCAAGCTTTAAGAAATGCT c.1380
R H Q R N K A K F L T D K | L Q A L R N A p.460
. . . . . . g.63835
GTTCAGACTGGCCTTGATCCAGAAAAACCTCATCAGTCTCTCGATACCATCCAAAAAACC c.1440
V Q T G L D P E K P H Q S L D T I Q K T p.480
. . | 15 . . . . g.68361
ATCAATGAGTATAAATCTGAAATTCG | ACAAACAAGAAAATTCCGTGATGCTGAACAAGAA c.1500
I N E Y K S E I R | Q T R K F R D A E Q E p.500
. . . . . . g.68421
AAAGATAGAACATTGCTTAAGACTATCATAAAAGTTTGGAAAGAGATGAAATCCCTTCGA c.1560
K D R T L L K T I I K V W K E M K S L R p.520
. . . . | 16. . g.72067
GAGTTCCAGAGATTTACAAATACTCCCTTGAAACTTGTTTTGAGAAA | GGAAAAAGCTGAC c.1620
E F Q R F T N T P L K L V L R K | E K A D p.540
. . . . . . g.72127
CAGAAAGCAGATGAAGAAGCATATGAAGCAGAAATTCAAGCTGAAATAAGTGAACTGTTA c.1680
Q K A D E E A Y E A E I Q A E I S E L L p.560
. . . . . . g.72187
GAAGAGCACACGGAGGAGTACGCACAGAAGATGGAAGAATACAGAACGTCGTTACAACAG c.1740
E E H T E E Y A Q K M E E Y R T S L Q Q p.580
. . | 17 . . . . g.73069
TGGAAGGCCTGGAGGAAAGTGCAA | AGGGCCAAGAAGAAGAAAAGGAAACAAGCAGCAGAA c.1800
W K A W R K V Q | R A K K K K R K Q A A E p.600
. . . . . . g.73129
GAACATCCCGGTGATGAGATTGCAGAGCCGTATCCCGAGGAGGACCTTGTGAAGCCCAGC c.1860
E H P G D E I A E P Y P E E D L V K P S p.620
. . . . . . g.73189
CCTCCAGAGCCCACTGATCGGGCAGTGATAGAGCAGGAGGTGAGGGAGAGAGCAGCCCAG c.1920
P P E P T D R A V I E Q E V R E R A A Q p.640
. . . . . . g.73249
AGCAGGAGGAGGCCTTGGGAGCCCACGCTGGTCCCGGAGCTAAGCCTGGCAGGAAGCGTA c.1980
S R R R P W E P T L V P E L S L A G S V p.660
. . | 18 . . . . g.76008
ACACCCAATGACCAGTGCCCCAG | AGCGGAGGTCTCGAGAAGGGAGGATGTAAAGAAGCGC c.2040
T P N D Q C P R | A E V S R R E D V K K R p.680
. . . . . . g.76068
TCAGTGTACTTAAAAGTGCTGTTCAACAACAAGGAGGTGTCCAGGACAGTCAGTCGGCCA c.2100
S V Y L K V L F N N K E V S R T V S R P p.700
. . . . . . g.76128
CTAGGAGCAGACTTCCGAGTTCACTTTGGGCAGATTTTCAATTTGCAAATAGTCAACTGG c.2160
L G A D F R V H F G Q I F N L Q I V N W p.720
. . | 19 . . . . g.85997
CCGGAGAGTTTAACACTTCAG | GTCTATGAAACTGTCGGACACAGTAGTCCCACCTTGCTA c.2220
P E S L T L Q | V Y E T V G H S S P T L L p.740
. . . . . . g.86057
GCAGAAGTGTTTCTGCCTATTCCTGAGACTACTGTTGTCACTGGAAGGGCTCCTACTGAA c.2280
A E V F L P I P E T T V V T G R A P T E p.760
. . . . . | 20 g.88294
GAAGTGGAGTTTAGCAGTAATCAGCATGTGACACTGGACCACGAGGGAGTTGGAAGTG | GA c.2340
E V E F S S N Q H V T L D H E G V G S G | p.780
. . . . . . g.88354
GTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAA c.2400
V P F S F E A D G S N Q L T L M T S G K p.800
. . . . . . g.88414
GTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTG c.2460
V S H S V A W A I G E N G I P L I P P L p.820
. . | 21 . . . . g.90240
TCACAGCAGAACATCGGATTTCGGAG | TGCTTTGAAGAAAGCAGATGCCATCTCATCTATT c.2520
S Q Q N I G F R S | A L K K A D A I S S I p.840
. . . . . . g.90300
GGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTC c.2580
G T S G L T D M K K L A K W A A E S K L p.860
. . . . | 22 . . g.92453
GACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCG | GTTGCTACCAGTGGT c.2640
D P N D P N N A P L M Q L I S | V A T S G p.880
. . . . . . g.92513
GAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTT c.2700
E S Y V P D F F R L E Q L Q Q E F N F V p.900
. . . . . . g.92573
TCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAG c.2760
S D Q E L N R S K R F R L L H L R S Q E p.920
. . . . . . g.92633
GTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAG c.2820
V P E F R N Y K Q V P V Y D R E I M E K p.940
| 23 . . . . . g.94350
GTATTCCAG | GACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACAC c.2880
V F Q | D Y E K R L R D R N V I E T K E H p.960
. . . . | 24 . . g.95683
ATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAG | GTTAGAGAATCAGTGATA c.2940
I D T H R A I V A K Y L Q Q | V R E S V I p.980
. . . . . . g.95743
AATCGTTTCTTAATTGCAAAACAATATTTTCTTCTTGCTGATATGATAGTAGAAGAAGAA c.3000
N R F L I A K Q Y F L L A D M I V E E E p.1000
. | 25 . . . . . g.98535
GTTCCCAATATCAG | CATTTTGGGCCTAAGCCTTTTCAAGCTGGCAGAACAAAAGCGACCA c.3060
V P N I S | I L G L S L F K L A E Q K R P p.1020
. . . . . . g.98595
CTGCGGCCAAGGAGAAAAGGTCGGAAGAAGGTGACAGCCCAAAACCTGTCTGATGGAGAC c.3120
L R P R R K G R K K V T A Q N L S D G D p.1040
. . . . . . g.98655
ATAAAGCTGCTGGTGAACATTGTGCGAGCTTACGACATTCCAGTGAGGAAGCCGGCAGTG c.3180
I K L L V N I V R A Y D I P V R K P A V p.1060
| 26 . . . . . . g.102569
AG | CAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCC c.3240
S | K F Q Q P S R S S R M F S E K H A A S p.1080
. . . . | 27 . g.102823
CCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAG | GTTTTAGTACGT c.3300
P S T Y S P T H N A D Y P L G Q | V L V R p.1100
. . . . . . g.102883
CCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCA c.3360
P F V E V S F Q R T V C H T T T A E G P p.1120
. . . | 28 . . g.104449
AACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAG | GGCTCCTAATGGAGATTATAGC c.3420
N P S W N E E L E L P F R | A P N G D Y S p.1140
. . . . . . g.104509
ACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTG c.3480
T A S L Q S V K D V V F I N I F D E V L p.1160
. | 29 . . . . . g.105577
CATGATGTCTTAGAG | GATGACCGTGAAAGAGGAAGTGGAATCCATACTCGTATTGAGAGA c.3540
H D V L E | D D R E R G S G I H T R I E R p.1180
. . . . . | 30 . g.109290
CACTGGCTGGGATGTGTGAAAATGCCATTTAGCACAATATATTTCCAAGCAAGG | ATTGAT c.3600
H W L G C V K M P F S T I Y F Q A R | I D p.1200
. . . . . . g.109350
GGAACATTTAAAATAGATATTCCCCCAGTTCTTCTGGGCTACAGTAAGGAGCGAAATATG c.3660
G T F K I D I P P V L L G Y S K E R N M p.1220
. . . . . . g.109410
ATTCTTGAGCGGGGTTTTGATTCTGTCCGAAGCTTAAGTGAAGGCTCCTACATTACCCTC c.3720
I L E R G F D S V R S L S E G S Y I T L p.1240
. . . . . | 31 . g.115111
TTTATTACCATTGAGCCCCAGCTGGTTCCTGGAGAGTCCATTCGAGAAAAG | TTTGAGTCT c.3780
F I T I E P Q L V P G E S I R E K | F E S p.1260
. . . . . . g.115171
CAGGAAGATGAGAAATTACTTCAAGCAACTGAGAAGTTTCAAGCTGAATGTGCCTTAAAG c.3840
Q E D E K L L Q A T E K F Q A E C A L K p.1280
. . . . . . g.115231
TTTCCAAATCGTCAGTGCCTTACAACAGTAATTGATATAAGCGGAAAAACTGTTTTTATC c.3900
F P N R Q C L T T V I D I S G K T V F I p.1300
. . . . . . g.115291
ACACGTTATCTCAAACCTTTAAACCCTCCTCAGGAGCTCCTTAATGTCTACCCCAATAAT c.3960
T R Y L K P L N P P Q E L L N V Y P N N p.1320
. | 32 . . . . . g.121336
CTACAGGCAACTGCA | GAACTGGTGGCTCGATATGTGTCCTTGATTCCCTTCTTGCCTGAC c.4020
L Q A T A | E L V A R Y V S L I P F L P D p.1340
. . . . | 33 . . g.122965
ACTGTCTCATTTGGTGGTATCTGTGACCTCTGGAGCACATCTGAT | CAATTTCTTGATCTC c.4080
T V S F G G I C D L W S T S D | Q F L D L p.1360
. . . . . . g.123025
CTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGT c.4140
L A G D E E E H A V L L C N Y F L S L G p.1380
. . . | 34 . . g.124700
AAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAG | GGTCCAACTGCCTATGTGCTA c.4200
K K A W L L M G N A I P E | G P T A Y V L p.1400
. . . . . . g.124760
ACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGGACAA c.4260
T W E Q G R Y L I W N P C S G H F Y G Q p.1420
. . . . . | 35 . g.131225
TTTGATACATTCTGTCCCTTGAAAAATGTGGGCTGTTTAATAGGTCCTGACAAT | ATTTGG c.4320
F D T F C P L K N V G C L I G P D N | I W p.1440
. . . . . . g.131285
TTTAATATTCAACGATATGAATCTCCACTAAGGATAAATTTTGATGTCACCAGGCCCAAG c.4380
F N I Q R Y E S P L R I N F D V T R P K p.1460
. . . . . | 36. g.132544
CTATGGAAATCTTTCTTTTCAAGAAGCCTTCCATATCCTGGCCTTTCCAGTGTTCAG | CCT c.4440
L W K S F F S R S L P Y P G L S S V Q | P p.1480
. . . . . | 37 . g.134667
GAAGAGCTAATTTACCAGCGCTCAGACAAAGCAGCTGCAGCTGAGCTACAAGACAG | GATT c.4500
E E L I Y Q R S D K A A A A E L Q D R | I p.1500
. . . . . . g.134727
GAAAAAATACTAAAAGAAAAAATCATGGACTGGAGGCCACGCCATCTGACTCGGTGGAAT c.4560
E K I L K E K I M D W R P R H L T R W N p.1520
. . . . . . g.134787
AGGTATTGTACCTCTACTCTGCGTCACTTCTTGCCTCTGTTAGAAAAAAGTCAAGGAGAA c.4620
R Y C T S T L R H F L P L L E K S Q G E p.1540
. . . . . | 38 . g.136377
GATGTAGAAGATGACCACAGAGCAGAACTGCTAAAACAGCTGGGAGACTACAGG | TTCTCT c.4680
D V E D D H R A E L L K Q L G D Y R | F S p.1560
. . . . . . g.136437
GGATTTCCTCTTCACATGCCTTATTCTGAAGTGAAGCCTTTAATTGACGCTGTGTATAGT c.4740
G F P L H M P Y S E V K P L I D A V Y S p.1580
. . . . . . g.136497
ACTGGAGTACATAATATTGATGTTCCTAATGTTGAATTTGCTTTAGCTGTATACATACAC c.4800
T G V H N I D V P N V E F A L A V Y I H p.1600
. . . . . . g.136557
CCATACCCCAAAAATGTTTTGTCTGTTTGGATCTATGTTGCCTCTCTTATACGCAACAGG c.4860
P Y P K N V L S V W I Y V A S L I R N R p.1620
g.136560
TAA c.4863
X p.1620
. . . . . . g.136620
tttttttcactgtactttctgtatcatgtaaaaactacacttaggatatgagaaaatttt c.*60
. . . . . . g.136680
aaattatatgcatcacatcagaagaacatattattggcaaataataaaattatcaactgt c.*120
. g.136692
tttcaaactgtg c.*132
(downstream sequence)
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