(used for variant description)
(last modified February 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001029883.2 in the C2orf71 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021427.1, covering C2orf71 transcript NM_001029883.2.
(upstream sequence)
. . . . . . g.60
ATGGGGTGTACACCTTCACACAGTGACCTTGTAAACAGCGTTGCAAAGAGTGGCATTCAG c.60
M G C T P S H S D L V N S V A K S G I Q p.20
. . . . . . g.120
TTCTTGAAAAAGCCCAAAGCAATTCGGCCAGGATGTCAGGGCGGAAGTGAAAGAGGTTCC c.120
F L K K P K A I R P G C Q G G S E R G S p.40
. . . . . . g.180
ATCCCTTTGCTGGTTAAAAACTCCACCTGCTATGACGCTGGGGAGGGCCTGGCAGAGGAG c.180
I P L L V K N S T C Y D A G E G L A E E p.60
. . . . . . g.240
CAGCCAAGTCCCAGGAGGAACCAAACCACAGCTAAAGGTCTTTGTCAGCTCATGGGAGAT c.240
Q P S P R R N Q T T A K G L C Q L M G D p.80
. . . . . . g.300
CCTGCTTCAGGCAAAAGGAAAGATATGGAAGGACTGATCCCAGGAACCAAAACCTCTTCA c.300
P A S G K R K D M E G L I P G T K T S S p.100
. . . . . . g.360
TCCCAGCTGAACAAATCACAAAGCCACATGGCTAAGGATATTCCGTTCAAGACACAGGGT c.360
S Q L N K S Q S H M A K D I P F K T Q G p.120
. . . . . . g.420
TCCCATGGATCACAAGGGGCAGACTTTTCTGGAGATGAGAGTGAGGAAAGTAGTACCCAA c.420
S H G S Q G A D F S G D E S E E S S T Q p.140
. . . . . . g.480
GATACTTCCAAATGGAAAAGGACAGCAAAATGTCACACGTCAAGCACACAGAGCCACTGC c.480
D T S K W K R T A K C H T S S T Q S H C p.160
. . . . . . g.540
TACCAAACCATCCACCCTGCTCATGAGCCTGAAGGCAAAGTGGACTTCCCGGAGCCTCTG c.540
Y Q T I H P A H E P E G K V D F P E P L p.180
. . . . . . g.600
GTAAAGGCCCACCAGCAGGCTTACACCTATCTACACTCCAGCCTCTCCAAATATGAAGCA c.600
V K A H Q Q A Y T Y L H S S L S K Y E A p.200
. . . . . . g.660
ATTCTGTGCATCATCCATCAGGCCACCCAGACCCGGGAGCTGCTGCAGCCCATGGTCAGC c.660
I L C I I H Q A T Q T R E L L Q P M V S p.220
. . . . . . g.720
TTCTTGCTGCTGTGCTTTGAGGAGATCAGCCAGCTGTTGGGGGAGATCTCCAAGGATGGA c.720
F L L L C F E E I S Q L L G E I S K D G p.240
. . . . . . g.780
GAAGTGCTCCTGCAGGAAGTCAGGGAGGATCTGGCTTGGCCTTTGAAGAAAAGAGAGCCC c.780
E V L L Q E V R E D L A W P L K K R E P p.260
. . . . . . g.840
CAGGAGCAGCCAAATCTCCTGCAACAGCTGCTACAGTACACAGTCAGCAAGCTGCAGGTG c.840
Q E Q P N L L Q Q L L Q Y T V S K L Q V p.280
. . . . . . g.900
CTCAATGGCACAGTGGCCTCGCTCACCGGCAGCTTCCTGGAGGGCTCCAGCAGCTACCTC c.900
L N G T V A S L T G S F L E G S S S Y L p.300
. . . . . . g.960
CACTCCACTGCAACCCACTTGGAAAATAAGCTGAGCACAAAAAGGAATGTGGATGAACGC c.960
H S T A T H L E N K L S T K R N V D E R p.320
. . . . . . g.1020
CTCCTGAGGGCTCTGAGGCAGCTAGAGAGCCTGGCGAGTGGCTGTGGCGACCCTGGGGTG c.1020
L L R A L R Q L E S L A S G C G D P G V p.340
. . . . . . g.1080
CAGGGTCTCCCCTTATGCTCTGAGGACAGTGGCATTGGTGCTGACAATGAGTCCGTGCAG c.1080
Q G L P L C S E D S G I G A D N E S V Q p.360
. . . . . . g.1140
TCGGTGGACAAGCTGGGCAAGCAAACCAGCTGGGACCTTGCACCAGAGCCCGAAGAATGG c.1140
S V D K L G K Q T S W D L A P E P E E W p.380
. . . . . . g.1200
AAGTCGGTGACTTCACCCCACACAGAGGCCAGGCAGTCAGGACACACCTGGCAGCAAAGT c.1200
K S V T S P H T E A R Q S G H T W Q Q S p.400
. . . . . . g.1260
CCATTCTGTTTGGGCTCAGGCAGACCCCAGGACTGCCTGCTCTCAGGGGCTCCTATGGCA c.1260
P F C L G S G R P Q D C L L S G A P M A p.420
. . . . . . g.1320
AAGGTTCAGCCACGAGCACAGGACGAAGCAAGGAGCCCATGCCTCTCCAGTACAAGCCCA c.1320
K V Q P R A Q D E A R S P C L S S T S P p.440
. . . . . . g.1380
GAAAATATCACCTCCCCACCTTTGAAGCTGGGGACAAGCACCCCATGTGATTCCTTTGGG c.1380
E N I T S P P L K L G T S T P C D S F G p.460
. . . . . . g.1440
ATTGGGGTCTCTGTGGAACCACACCTTTCCAAAACCTCCAGGCCGATGGACGCTTCATCT c.1440
I G V S V E P H L S K T S R P M D A S S p.480
. . . . . . g.1500
CTTAGTGACAGCGAGGACAGCAGCCCAGAGGAGGAGGAGGAAGACAAAATGAGCAGCATG c.1500
L S D S E D S S P E E E E E D K M S S M p.500
. . . . . . g.1560
AGTCTGTGTGCCTGGCAGGAAAAAACTCCACATTCAAGGCCACAATCTTCACCTGCTGAC c.1560
S L C A W Q E K T P H S R P Q S S P A D p.520
. . . . . . g.1620
CGGGAAAGCCCATTTCAGGCCCGCACCAGGAGGCTTAGGAGCCTCCAGGCCCAGGAAATG c.1620
R E S P F Q A R T R R L R S L Q A Q E M p.540
. . . . . . g.1680
ATTCTGAAGATGAAGGAGTCAATCAGCGAAAGGATCAAGTTTGTCCCTGTGCCCTGTGGG c.1680
I L K M K E S I S E R I K F V P V P C G p.560
. . . . . . g.1740
CACCAGGACTGGTCTGAGGAGGAGGAGGGGAGGACAGTGGTCCCCCCAAGACCTAGCACG c.1740
H Q D W S E E E E G R T V V P P R P S T p.580
. . . . . . g.1800
GTAAGTGGCAGCAGGAGGGCCCCTGAGAGGCAGACGAGGTCCCAGTCAGAGTCGTGTCTC c.1800
V S G S R R A P E R Q T R S Q S E S C L p.600
. . . . . . g.1860
CAGAGTCACGTGGAGGACCCCACCTTTCAGGAGCTGCGAAGGGTCCAGAGGGACCTCAGT c.1860
Q S H V E D P T F Q E L R R V Q R D L S p.620
. . . . . . g.1920
CAGAAGCTGGAGGCATTTTATGCCCTGGGTGCCAAAGGGCAGGGGCAGAGCCAGGAGCAA c.1920
Q K L E A F Y A L G A K G Q G Q S Q E Q p.640
. . . . . . g.1980
ATTCTGCAGCCCAGAGCAGCCGCCGTGTGGCCCAATGGCACCTGCAGGGTCAGTCCAAGC c.1980
I L Q P R A A A V W P N G T C R V S P S p.660
. . . . . . g.2040
AACACCACCAGCAGGCTCAAGGCATCCCTCACCAAGAACTTCAGTATTTTGCCTAGTCAG c.2040
N T T S R L K A S L T K N F S I L P S Q p.680
. . . . . . g.2100
GACAAGAGCATCTTGCAGAAATGCAATCCCCATCCTGAGGACGAACAAGGCAAAGCTGGG c.2100
D K S I L Q K C N P H P E D E Q G K A G p.700
. . . . . . g.2160
AAGCTTCCAAATGCCATCCCATCAGGAGAGGTCAGTGAGGCTGCCAAGGCCACAGACTGG c.2160
K L P N A I P S G E V S E A A K A T D W p.720
. . . . . . g.2220
AATGTCAGAGGCTGTCCCACCAGAACATCCGTCAAGAAGCTTATTGAAACTTTCAGTCCC c.2220
N V R G C P T R T S V K K L I E T F S P p.740
. . . . . . g.2280
ACGGAGAGTCTGAGGATGCTGGGGGACTCTAAGGACGCTGGGGCAAGTCCCTGCCTCAGG c.2280
T E S L R M L G D S K D A G A S P C L R p.760
. . . . . . g.2340
AATTGCATCATGCCCCCCAGATTTCCCAAGTACACAGGGCTTGCCCCTTTGTATCCGAAG c.2340
N C I M P P R F P K Y T G L A P L Y P K p.780
. . . . . . g.2400
CCCCAAATTTCTCCAGCATCAGGCAGAGAATCTCTCAAAATGGGCATAGGCTGGAAGCCC c.2400
P Q I S P A S G R E S L K M G I G W K P p.800
. . . . . . g.2460
TTAGCACCTATCTTTCCCCCTCTGCCTAAAGCAGAAGCAGCCAAGAGTGAGGAGCTCAGC c.2460
L A P I F P P L P K A E A A K S E E L S p.820
. . . . . . g.2520
TGTGAAATGGAGGGGAACCTCGAGCACCTCCCTCCACCGCCTATGGAAGTTCTGATGGAC c.2520
C E M E G N L E H L P P P P M E V L M D p.840
. . . . . . g.2580
AAATCATTCGCTTCTCTGGAGTCCCCAGAAAGCAGCAAGTCCACAGAGAACTCCCCCAAG c.2580
K S F A S L E S P E S S K S T E N S P K p.860
. . . . . . g.2640
GAAACCCAGGAGCCAGGGCCGGGAGAGGCTGGCCCCACCAGGAGAACATGGGCTTCCCCA c.2640
E T Q E P G P G E A G P T R R T W A S P p.880
. . . . . . g.2700
AAGCTGAGGGCCTCTGTGAGCCCCCTGGACTTGCTGCCCAGCAAGAGCACCGCCAGCCTG c.2700
K L R A S V S P L D L L P S K S T A S L p.900
. . . . . . g.2760
ACCAAGCCTCACAGCACAGGGCCAGGGAGTGGCAGGAGCAGCTGCCAGCCCAGGAAGCCA c.2760
T K P H S T G P G S G R S S C Q P R K P p.920
. . . . . . g.2820
GCCCTGGACCTGAGCAGCCCACCAGCCACCAGCCAAAGCCCCGAGGTGAAGGGTGGGACT c.2820
A L D L S S P P A T S Q S P E V K G G T p.940
. . . . . . g.2880
TGGAGTCAGGCAGAGAAGGCCACCAGCCTCTACAGGCAGCCCCGGAAGGCCATCGCCTGG c.2880
W S Q A E K A T S L Y R Q P R K A I A W p.960
. . . . . . g.2940
CACCACTCCGGCCCTCCATCTGGACAAAACAGGACCTCAGAGTCCAGCCTGGCCAGACCA c.2940
H H S G P P S G Q N R T S E S S L A R P p.980
. . . . . . g.3000
AGGCAGAGCCGAGAGAGAAGCCCCCCTGTGGGCAGAAAGGCCTCTCCCACGAGGACACAC c.3000
R Q S R E R S P P V G R K A S P T R T H p.1000
. . . . . . g.3060
TGGGTGCCTCAAGCAGACAAGAGGCGCCGGAGCCTTCCCTCCTCTTACAGACCTGCCCAG c.3060
W V P Q A D K R R R S L P S S Y R P A Q p.1020
. . . . . . g.3120
CCAAGCCCCTCTGCTGTGCAGACGCCCCCCAGCCCACCTGTGAGCCCCAGGGTGCTAAGC c.3120
P S P S A V Q T P P S P P V S P R V L S p.1040
. . . . . . g.3180
CCACCCACCACAAAGCGGCGAACTTCCCCACCGCACCAGCCCAAGTTGCCCAACCCTCCC c.3180
P P T T K R R T S P P H Q P K L P N P P p.1060
. . . . . . g.3240
CCCGAGAGTGCACCTGCTCAGTGCAAGGTCCCCAGCCCCCCAACCCAGCACCCAGAAGCA c.3240
P E S A P A Q C K V P S P P T Q H P E A p.1080
. . . . . . g.3300
AGCCCCCCTTTCTCGATTCCCTCCCCATCACCCCCAATGTCCCCTTCTCAGGAGCACAAG c.3300
S P P F S I P S P S P P M S P S Q E H K p.1100
. . . . . . g.3360
GAAACAAGAGACTCTGAAGACAGCCAAGCAGTCATAGCCAAAGTGTCTGGGAACACACAT c.3360
E T R D S E D S Q A V I A K V S G N T H p.1120
. . . . . . g.3420
TCCATATTCTGCCCAGCTACCTCCTCTCTGTTTGAAGCTAAACCGCCACTCTCAACAGCC c.3420
S I F C P A T S S L F E A K P P L S T A p.1140
. . . . . . g.3480
CACCCACTGACCCCACCATCGCTGCCGCCAGAGGCTGGGGGCCCTCTCGGGAACCCAGCA c.3480
H P L T P P S L P P E A G G P L G N P A p.1160
. . . . . . g.3540
GAATGCTGGAAGAACAGCTCAGGGCCTTGGCTGAGAGCAGACTCGCAGCGGAGAGCAGCT c.3540
E C W K N S S G P W L R A D S Q R R A A p.1180
. . . . . . g.3600
CTGTGTGCCCTCAACCCTCTGCCTTTCCTCAGGAGGACAGCTTCTGACCGCCAGCCAGGT c.3600
L C A L N P L P F L R R T A S D R Q P G p.1200
. . . . . . g.3660
GGCCGACCGCAGCCTCCCACCTTGGACCCCACCAGCACCTCTTATGAATCCCAGCTCGGC c.3660
G R P Q P P T L D P T S T S Y E S Q L G p.1220
| 02 . . . . . g.9246
CAGAACAG | CAGCAGCGAGGAGAGCCCTAAGAAGGACACAGAGCCGGGGAGCAGCCCCTGT c.3720
Q N S | S S E E S P K K D T E P G S S P C p.1240
. . . . . . g.9306
TCCCCTGAACTGCAGGGCGGCACCAGGCGTGCATCTCCCCCAGAGTTCTGTGTGCTGGGC c.3780
S P E L Q G G T R R A S P P E F C V L G p.1260
. . . . . . g.9366
CACGGGCTGCAACCGGAGCCTCGGACCGGCCACATCCAGGACAAATCCCAGCCAGAGGCG c.3840
H G L Q P E P R T G H I Q D K S Q P E A p.1280
. . g.9393
CAGCCCCAGCAAGAGGAGGTGTCCTGA c.3867
Q P Q Q E E V S X p.1288
. . . . . . g.9453
caggctgacgagggggccacactcacgcagtcaccccagaaggccaagtgtgacagccaa c.*60
. . . . . . g.9513
gtgtccagcctgacccagagatgatgggcaaaccaaactcctactgaggtgtcctggaaa c.*120
. . . . . . g.9573
ggcctggaaggtgcactgcccagtgggtctgctgaattttaaacaatcgccgttttcagt c.*180
. . . . . . g.9633
cccagatcttgctctgccttggggttcaaaggttaaccagaacttttagaccccacaatg c.*240
. . . . . . g.9693
acagtatttaatgcttcaagtgctggccttaatttggggtggggtggggggtggagaatg c.*300
. . . . . . g.9753
tatagttgcatgcttgatagggttttaactgggttcattccttgagatcacttaagcctc c.*360
. . . . . . g.9813
acaacagtgaatgaagcacatagcattcttcagttttgcgcatatgaaaaccgaaggtgt c.*420
. . . . . . g.9873
ggggagaggccccctcaagtgtctggctgaaggtcatacagctaagaagagaatagagca c.*480
. . . . . . g.9933
aaattttgcacagatgagtctggtgttagaatctctctgctctttttattacattccatt c.*540
. . . . . . g.9993
gcccgtaactattgcgtcactccacctgcctaaagcagacatgggtgcgcaaatggtcgc c.*600
. . . . . . g.10053
aaagcttctttgttgtaaggttaagtagcggcacagcattgacaaagtccctattgagag c.*660
. . . . . . g.10113
ctttgtttagaagtgcatggctcccaaaatgagaaggctgagtgagccaggattaaaaca c.*720
. . . . . . g.10173
cacagccccacccgtcctctgtcctctcctccttcccaagctcagtttcaatgctgtaaa c.*780
. . . . . . g.10233
cttaaagctgacagctcacaataccagccacgctgcctctcggcctaagcatgtagcaaa c.*840
. . . . . . g.10293
tgctctcactgccctacgcattacatgcttctcgacggagtagggtaaaccaagcctccc c.*900
. . . . . . g.10353
aaacaaggcagcccattctccacatgccgtgggtgctggagctcagaagatagcgtgggt c.*960
. . . . . . g.10413
gaggcatacgtactcacacgccgatctcccctcggaggcttcttggccaactttattccc c.*1020
. . . . . . g.10473
aggtcatcttgcagaacttctgctggagtcgaaatcaaagtgaaaaacagttgttcatgc c.*1080
. . . . . . g.10533
caaaaacctgcttctgccaatgagctagatatttgctgcagatcttggaatgcttccact c.*1140
. . . . . . g.10593
ggaggctgtggtgtgcgttctatttagaaaagattttgcagtaattgagtgattcaatgc c.*1200
. . . . . . g.10653
cggctcaatgggttggcaaaagacaagaattcttacccactggggtacagcaaagggacg c.*1260
. . . . . . g.10713
atcctccagatctgctgcaaagctgatttttaaagtttggggtaattatagacctcaaac c.*1320
. . . . . . g.10773
ccattcttgctgggactgtgggctcaaaaacttgttaaactgggtccctagggactatag c.*1380
. . . . . . g.10833
caacctcccccagagagaggctatgactctgagtaaatgaatcccaccttgacttgtcca c.*1440
. . . . . . g.10893
attattattcaaaggcacccaaagaacagctgattaaactaccaagaggggccacaaccc c.*1500
. . . . . . g.10953
acccctctgctggaaagggacacacccagctgtctgctcgcatttgctcctgttgccgcc c.*1560
. . . . . . g.11013
ctcatctcagagaagtgctcaggcagtgcccaggccagccgattctagagccaagccaca c.*1620
. . . . . . g.11073
cccactgctgggtggacacttaggagctgcctggactgcaggcaacgcagggaagtccag c.*1680
. . . . . . g.11133
ccacccaggcagggcaggggccaaggtaagcacgtgaggatggaccaggttcagcaaact c.*1740
. . . . . . g.11193
tgcccgacagagatctgggcattctccctaaatggttgggcagaccaaccattgggtcac c.*1800
. . . . . . g.11253
catggggtgagccttaggtaagctgggcactgagctgagtgagcaggagacacacagtgt c.*1860
. . . . . . g.11313
gagcggcctttgaggtctagctcacaagtaagtggcttcaggtgggactgctcagaaagt c.*1920
. . . . . . g.11373
gggccctgcctgggctcagatttaggggcaggattcctggaggtccgaggaaacgaagct c.*1980
. . . . . . g.11433
gttccccagctgcagggagactggagtgggacacagtgggtgaaactggggtaccatgag c.*2040
. . . . . . g.11493
gggtggaaccccaggaattatacacattttcattactggaaccgggatatgaagtggagc c.*2100
. . . . . . g.11553
cactccagcagtgaggggaagcaaggctgagtctccagcccaggcctccttccgtaaagg c.*2160
. . . . . . g.11613
gcctcatcttaaaagtccagggctgggtagaaagtggaaagggtggccgagtgccccctg c.*2220
. . . . . . g.11673
ctgtggccatgcaagctagcggcagcagggagccaggcagattattccaccacagaaggg c.*2280
. . . . . . g.11733
gtcagtatcatggagaacacgcaggaagggtccggaatgaacaacggtgctttccgtgag c.*2340
. . . . . . g.11793
catgcatggcaggaggctgtctgagactagaggttgtccctcgccaggctaggctggcaa c.*2400
. . . . . . g.11853
gcagcaggaagtgcccacccaccatattgcaggcagcagacgaaggggtacagggcaccc c.*2460
. . . . . . g.11913
gggatcctgccatcagctgtggagatgcccatgatgcctccttgtccctctggaggacct c.*2520
. . . . . . g.11973
ccacgtttgcttggggccaacgtgtgccaggacagggcgaggctcctgccataggtcccc c.*2580
. . . . . . g.12033
acacacgatgtcataaaagcccccagctgccaccagacccaggcagccgggacagtgagc c.*2640
. . . . . . g.12093
tggtgacaccattgtgttgcccagtaaccttaggctactggaattccaagtcagcttccc c.*2700
. . . . . . g.12153
ccactccagggaagatggggaggggttgccaaggtgctgggggctgggggtcaattaggt c.*2760
. . . . . . g.12213
caaaggtgaagcagtgctgagccgacataggagcaggcgggtcaaagatgtgtttttggc c.*2820
. . . . . . g.12273
taccataccaactaccagacttagctcaaattacatgtgaattagactttgtacaaaagg c.*2880
. . . . . . g.12333
aattaaatccacaatggaacagttttgtggcatctggtcagttttgcctcctagagacca c.*2940
. . . . . . g.12393
ggtcttccacaaacttgagtctgccttggagcacgcattgctggtggcaggaggggcaaa c.*3000
. . . . . . g.12453
cccagctgtacagcttctcagacaagggctgctcacgcccaccatctcccttctacccaa c.*3060
. . . . . . g.12513
gaatggtatccttgctgggccaaatccacttcctttgcccaagggggaagggaggacagt c.*3120
. . . . . g.12572
ttttctttgttctgctttttgttttaataaaaattattaagccaatgaacccaactcat c.*3179
(downstream sequence)
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