Canonical Allele Identifier: CA346598872

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1422094082
• gnomAD v3: 2-31580678-G-A
• gnomAD v4: 2-31580678-G-A
• MyVariant Identifiers: chr2:g.31805748G>A (hg19) ; chr2:g.31580678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580678G>A , CM000664.2:g.31580678G>A	GRCh38
NC_000002.11:g.31805748G>A , CM000664.1:g.31805748G>A	GRCh37
NC_000002.10:g.31659252G>A	NCBI36
NG_008365.1:g.5294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.223C>T MANE Select	ENSP00000477587.1:p.Leu75Phe
ENST00000622030.1:c.223C>T	ENSP00000477587.1:p.Leu75Phe
NM_000348.3:c.223C>T	NP_000339.2:p.Leu75Phe
XM_011533068.1:c.223C>T	XP_011531370.1:p.Leu75Phe
XM_011533070.1:c.27-46912C>T	XP_011531372.1:n.27-46912C>T
XM_011533071.1:c.27-46912C>T	XP_011531373.1:n.27-46912C>T
XM_011533072.1:c.27-46912C>T	XP_011531374.1:n.27-46912C>T
XM_011533072.2:c.27-46912C>T	XP_011531374.1:n.27-46912C>T
NM_000348.4:c.223C>T MANE Select	NP_000339.2:p.Leu75Phe