Canonical Allele Identifier: CA1600035

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 492895
• ClinVar RCV Id: RCV000583658 ; RCV001591351
• dbSNP Id: rs761824859
• ExAC: 2:31805911 A / G
• gnomAD v2: 2-31805911-A-G
• gnomAD v3: 2-31580842-A-G
• gnomAD v4: 2-31580842-A-G
• MyVariant Identifiers: chr2:g.31805911A>G (hg19) ; chr2:g.31580842A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580842A>G , CM000664.2:g.31580842A>G	GRCh38
NC_000002.11:g.31805911A>G , CM000664.1:g.31805911A>G	GRCh37
NC_000002.10:g.31659415A>G	NCBI36
NG_008365.1:g.5130T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.59T>C MANE Select	ENSP00000477587.1:p.Leu20Pro
ENST00000622030.1:c.59T>C	ENSP00000477587.1:p.Leu20Pro
NM_000348.3:c.59T>C	NP_000339.2:p.Leu20Pro
XM_011533068.1:c.59T>C	XP_011531370.1:p.Leu20Pro
XM_011533070.1:c.27-47076T>C	XP_011531372.1:n.27-47076T>C
XM_011533071.1:c.27-47076T>C	XP_011531373.1:n.27-47076T>C
XM_011533072.1:c.27-47076T>C	XP_011531374.1:n.27-47076T>C
XM_011533072.2:c.27-47076T>C	XP_011531374.1:n.27-47076T>C
NM_000348.4:c.59T>C MANE Select	NP_000339.2:p.Leu20Pro