Canonical Allele Identifier: CA1599847

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 436858
• ClinVar RCV Id: RCV000499604 ; RCV000873320 ; RCV001446958
• dbSNP Id: rs145712014
• ExAC: 2:31751297 G / T
• gnomAD v2: 2-31751297-G-T
• gnomAD v3: 2-31526227-G-T
• gnomAD v4: 2-31526227-G-T
• MyVariant Identifiers: chr2:g.31751297G>T (hg19) ; chr2:g.31526227G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31526227G>T , CM000664.2:g.31526227G>T	GRCh38
NC_000002.11:g.31751297G>T , CM000664.1:g.31751297G>T	GRCh37
NC_000002.10:g.31604801G>T	NCBI36
NG_008365.1:g.59745C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.734C>A MANE Select	ENSP00000477587.1:p.Ser245Tyr
ENST00000622030.1:c.734C>A	ENSP00000477587.1:p.Ser245Tyr
NM_000348.3:c.734C>A	NP_000339.2:p.Ser245Tyr
XM_011533069.1:c.512C>A	XP_011531371.1:p.Ser171Tyr
XM_011533070.1:c.479C>A	XP_011531372.1:p.Ser160Tyr
XM_011533071.1:c.479C>A	XP_011531373.1:p.Ser160Tyr
XM_011533072.1:c.479C>A	XP_011531374.1:p.Ser160Tyr
XM_011533069.2:c.512C>A	XP_011531371.1:p.Ser171Tyr
XM_011533072.2:c.479C>A	XP_011531374.1:p.Ser160Tyr
NM_000348.4:c.734C>A MANE Select	NP_000339.2:p.Ser245Tyr