Canonical Allele Identifier: CA425627741
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs2148107544
gnomAD v4: 2-31580978-G-C
MyVariant Identifiers: chr2:g.31806047G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580978G>C , CM000664.2:g.31580978G>C GRCh38
NC_000002.11:g.31806047G>C , CM000664.1:g.31806047G>C GRCh37
NC_000002.10:g.31659551G>C NCBI36
NG_008365.1:g.4994C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.1:c.-78C>G ENSP00000477587.1:n.-78C>G
XM_011533068.1:c.-78C>G XP_011531370.1:n.-78C>G
XM_011533070.1:c.27-47212C>G XP_011531372.1:n.27-47212C>G
XM_011533071.1:c.27-47212C>G XP_011531373.1:n.27-47212C>G
XM_011533072.1:c.27-47212C>G XP_011531374.1:n.27-47212C>G
XM_011533072.2:c.27-47212C>G XP_011531374.1:n.27-47212C>G