Canonical Allele Identifier: CA425566425
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v3: 2-31526127-T-A
gnomAD v4: 2-31526127-T-A
MyVariant Identifiers: chr2:g.31751197T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526127T>A , CM000664.2:g.31526127T>A GRCh38
NC_000002.11:g.31751197T>A , CM000664.1:g.31751197T>A GRCh37
NC_000002.10:g.31604701T>A NCBI36
NG_008365.1:g.59845A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.*69A>T MANE Select ENSP00000477587.1:n.*69A>T
ENST00000622030.1:c.*69A>T ENSP00000477587.1:n.*69A>T
NM_000348.3:c.*69A>T NP_000339.2:n.*69A>T
XM_011533069.1:c.*69A>T XP_011531371.1:n.*69A>T
XM_011533070.1:c.*69A>T XP_011531372.1:n.*69A>T
XM_011533071.1:c.*69A>T XP_011531373.1:n.*69A>T
XM_011533072.1:c.*69A>T XP_011531374.1:n.*69A>T
XM_011533069.2:c.*69A>T XP_011531371.1:n.*69A>T
XM_011533072.2:c.*69A>T XP_011531374.1:n.*69A>T
NM_000348.4:c.*69A>T MANE Select NP_000339.2:n.*69A>T