Canonical Allele Identifier: CA531720436
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs557711508
gnomAD v2: 2-31792503-G-GGTGT
gnomAD v3: 2-31567433-G-GGTGT
gnomAD v4: 2-31567433-G-GGTGT
MyVariant Identifiers: chr2:g.31792507_31792508insGTGT (hg19) chr2:g.31792503_31792504insGTGT (hg19) chr2:g.31567437_31567438insGTGT (hg38) chr2:g.31567433_31567434insGTGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31567454_31567457dup , CM000664.2:g.31567454_31567457dup GRCh38
NC_000002.11:g.31792524_31792527dup , CM000664.1:g.31792524_31792527dup GRCh37
NC_000002.10:g.31646028_31646031dup NCBI36
NG_008365.1:g.18535_18538dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+13183_281+13186dup MANE Select ENSP00000477587.1:n.281+13183_281+13186dup
ENST00000622030.1:c.281+13183_281+13186dup ENSP00000477587.1:n.281+13183_281+13186dup
NM_000348.3:c.281+13183_281+13186dup NP_000339.2:n.281+13183_281+13186dup
XM_011533068.1:c.281+13183_281+13186dup XP_011531370.1:n.281+13183_281+13186dup
XM_011533070.1:c.27-33671_27-33668dup XP_011531372.1:n.27-33671_27-33668dup
XM_011533071.1:c.27-33671_27-33668dup XP_011531373.1:n.27-33671_27-33668dup
XM_011533072.1:c.27-33671_27-33668dup XP_011531374.1:n.27-33671_27-33668dup
XM_011533072.2:c.27-33671_27-33668dup XP_011531374.1:n.27-33671_27-33668dup
NM_000348.4:c.281+13183_281+13186dup MANE Select NP_000339.2:n.281+13183_281+13186dup
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