Canonical Allele Identifier: CA346598001

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31529388-A-G
• MyVariant Identifiers: chr2:g.31754458A>G (hg19) ; chr2:g.31529388A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529388A>G , CM000664.2:g.31529388A>G	GRCh38
NC_000002.11:g.31754458A>G , CM000664.1:g.31754458A>G	GRCh37
NC_000002.10:g.31607962A>G	NCBI36
NG_008365.1:g.56584T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.617T>C MANE Select	ENSP00000477587.1:p.Leu206Pro
ENST00000622030.1:c.617T>C	ENSP00000477587.1:p.Leu206Pro
NM_000348.3:c.617T>C	NP_000339.2:p.Leu206Pro
XM_011533069.1:c.395T>C	XP_011531371.1:p.Leu132Pro
XM_011533070.1:c.362T>C	XP_011531372.1:p.Leu121Pro
XM_011533071.1:c.362T>C	XP_011531373.1:p.Leu121Pro
XM_011533072.1:c.362T>C	XP_011531374.1:p.Leu121Pro
XM_011533069.2:c.395T>C	XP_011531371.1:p.Leu132Pro
XM_011533072.2:c.362T>C	XP_011531374.1:p.Leu121Pro
NM_000348.4:c.617T>C MANE Select	NP_000339.2:p.Leu206Pro