(used for variant description)
(last modified October 12, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_004752.3 in the GCM2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008970.1, covering GCM2 transcript NM_004752.3.
(upstream sequence)
. g.5012
cacctggcgcac c.-61
. . . . . . g.5072
ctgtccttttttcttctatttttcagaaccctgggcggaaagcgcgagcgagttgggcag c.-1
. . . . . . g.5132
ATGCCGGCGGCCGCGGTGCAGGAAGCGGTCGGCGTGTGCTCCTACGGGATGCAGCTCAGC c.60
M P A A A V Q E A V G V C S Y G M Q L S p.20
. . . | 02 . . . g.9503
TGGGACATCAACGATCCGCAGATGCCTCAG | GAGCTGGCCCTCTTTGACCAATTCCGAGAG c.120
W D I N D P Q M P Q | E L A L F D Q F R E p.40
. . . . . . g.9563
TGGCCTGACGGCTATGTGCGCTTCATCTACAGCAGCGATGAGAAGAAGGCACAGCGTCAC c.180
W P D G Y V R F I Y S S D E K K A Q R H p.60
. . . . . . g.9623
CTGAGCGGCTGGGCCATGCGCAACACCAACAACCACAATGGCCACATCCTCAAGAAGTCG c.240
L S G W A M R N T N N H N G H I L K K S p.80
. . . . . . g.9683
TGCCTGGGTGTGGTGGTGTGTACACAGGCCTGCACCCTGCCCGACGGTTCCCGCCTGCAG c.300
C L G V V V C T Q A C T L P D G S R L Q p.100
. . . . | 03 . . g.10325
CTGAGGCCGGCCATCTGCGACAAGGCACGGCTGAAACAGCAGA | AGAAGGCATGCCCTAAC c.360
L R P A I C D K A R L K Q Q K | K A C P N p.120
. . . . . . g.10385
TGTCATTCTGCTTTGGAGTTGATTCCTTGTCGAGGGCACAGCGGATACCCCGTAACCAAC c.420
C H S A L E L I P C R G H S G Y P V T N p.140
. . . | 04 . . . g.10873
TTTTGGCGGCTTGATGGCAACGCGATCTTTTTTCAG | GCCAAGGGAGTTCATGATCATCCA c.480
F W R L D G N A I F F Q | A K G V H D H P p.160
. . . . . . g.10933
AGACCAGAGAGCAAATCAGAGACAGAAGCTAGAAGAAGCGCCATCAAGAGACAAATGGCC c.540
R P E S K S E T E A R R S A I K R Q M A p.180
. . . . | 05 . . g.11950
TCTTTCTACCAACCCCAGAAAAAGAGAATTCGAGAATCCGAG | GCAGAAGAAAATCAAGAC c.600
S F Y Q P Q K K R I R E S E | A E E N Q D p.200
. . . . . . g.12010
AGCAGTGGTCATTTCAGCAACATACCTCCCTTGGAAAATCCAGAAGACTTTGATATAGTT c.660
S S G H F S N I P P L E N P E D F D I V p.220
. . . . . . g.12070
ACTGAAACCAGCTTCCCTATTCCAGGGCAGCCTTGCCCTTCCTTCCCAAAGTCTGATGTT c.720
T E T S F P I P G Q P C P S F P K S D V p.240
. . . . . . g.12130
TACAAAGCTACCTGTGACCTAGCCACCTTTCAAGGAGACAAAATGCCACCCTTCCAGAAA c.780
Y K A T C D L A T F Q G D K M P P F Q K p.260
. . . . . . g.12190
TACTCAAGCCCAAGAATCTATTTGCCTAGGCCACCTTGCAGCTATGAATTGGCAAACCCT c.840
Y S S P R I Y L P R P P C S Y E L A N P p.280
. . . . . . g.12250
GGTTATACAAATTCAAGCCCATATCCCACCCTTTATAAGGATTCCACCAGTATCCCTAAT c.900
G Y T N S S P Y P T L Y K D S T S I P N p.300
. . . . . . g.12310
GACACAGACTGGGTTCATCTGAACACACTACAATGTAATGTCAATTCATACAGCAGCTAT c.960
D T D W V H L N T L Q C N V N S Y S S Y p.320
. . . . . . g.12370
GAGAGAAGCTTTGATTTCACCAACAAACAGCATGGCTGGAAACCAGCTCTTGGAAAACCC c.1020
E R S F D F T N K Q H G W K P A L G K P p.340
. . . . . . g.12430
AGCCTTGTGGAAAGGACTAACCATGGGCAGTTTCAGGCCATGGCCACTCGCCCTTATTAT c.1080
S L V E R T N H G Q F Q A M A T R P Y Y p.360
. . . . . . g.12490
AACCCAGAGCTTCCCTGCAGGTACCTCACGACTCCACCACCAGGTGCCCCTGCCCTACAA c.1140
N P E L P C R Y L T T P P P G A P A L Q p.380
. . . . . . g.12550
ACCGTGATCACCACCACCACTAAAGTGTCCTACCAGGCCTACCAGCCCCCTGCTATGAAA c.1200
T V I T T T T K V S Y Q A Y Q P P A M K p.400
. . . . . . g.12610
TACAGTGACAGTGTGCGAGAGGTGAAGAGCCTTTCGAGCTGTAACTATGCTCCTGAAGAT c.1260
Y S D S V R E V K S L S S C N Y A P E D p.420
. . . . . . g.12670
ACTGGGATGTCTGTCTATCCAGAACCCTGGGGTCCTCCGGTGACAGTCACCAGGGCAGCC c.1320
T G M S V Y P E P W G P P V T V T R A A p.440
. . . . . . g.12730
TCTCCTTCAGGGCCACCTCCTATGAAAATTGCAGGAGATTGCCGGGCCATCAGACCCACT c.1380
S P S G P P P M K I A G D C R A I R P T p.460
. . . . . . g.12790
GTGGCTATTCCCCACGAGCCAGTTTCCTCTAGGACAGATGAAGCAGAGACTTGGGATGTG c.1440
V A I P H E P V S S R T D E A E T W D V p.480
. . . . . . g.12850
TGTCTGTCTGGGCTGGGCTCCGCAGTCAGTTACTCAGACAGAGTGGGTCCCTTCTTTACC c.1500
C L S G L G S A V S Y S D R V G P F F T p.500
. . g.12871
TACAACAATGAGGATTTTTGA c.1521
Y N N E D F X p.506
. . . . . . g.12931
aagacaatccaggggacataatagcagtgtgcatgcaggcaggaggcagggaaatgtgaa c.*60
. . . . . . g.12991
atggcaatgatctcttattgagttgggagattcaccttgtgtgcaaagaaacacagatag c.*120
. . . . . . g.13051
tagtaaaaattctgagtaactgagaaaataatcagttggaaatgattagataatatggga c.*180
. . . . . . g.13111
aatttcacacagcattttgaaactggctacaatacatagaagtagtgaggaaagtgtgag c.*240
. . . . . . g.13171
tctctcaaatgaacaaataagcaaactgtaggaggttaaatactgacctaagttcactta c.*300
. . . . . . g.13231
gcttattagcaggagtagaagtcaaggattctggttcttattctaggacttttcccatta c.*360
. . . . . . g.13291
gagcaccttagggaatttcacatccctagaggctgccaaaatagcttcaggaagaaattt c.*420
. . . . . . g.13351
ttacaatcttatcacctgagtcatttcatgaaatttttgtttagcatttagaacctgtta c.*480
. . . . . . g.13411
aactagcttcaggaagtaattttgattgttttatctccaacgtgtgtatctacagctttt c.*540
. . . . . . g.13471
caaaaaatctctagcaatggtaaagttcagttgtttttaaaagattcaatattagctttt c.*600
. . . . . . g.13531
cataacatgatagtttcctaaccttttcataaccttttcataacatgatagtttccataa c.*660
. . . . . . g.13591
cagagacagcctaacaatgatgagttgtatttaatggattaccattgtactaaatacatt c.*720
. . . . . g.13643
ttttttctgattaggtttcagaattataattaaaatgttttgctgaaataca c.*772
(downstream sequence)
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