Canonical Allele Identifier: CA346598432

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31533618-T-A
• MyVariant Identifiers: chr2:g.31758688T>A (hg19) ; chr2:g.31533618T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533618T>A , CM000664.2:g.31533618T>A	GRCh38
NC_000002.11:g.31758688T>A , CM000664.1:g.31758688T>A	GRCh37
NC_000002.10:g.31612192T>A	NCBI36
NG_008365.1:g.52354A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.430A>T MANE Select	ENSP00000477587.1:p.Ile144Leu
ENST00000622030.1:c.430A>T	ENSP00000477587.1:p.Ile144Leu
NM_000348.3:c.430A>T	NP_000339.2:p.Ile144Leu
XM_011533068.1:c.430A>T	XP_011531370.1:p.Ile144Leu
XM_011533069.1:c.208A>T	XP_011531371.1:p.Ile70Leu
XM_011533070.1:c.175A>T	XP_011531372.1:p.Ile59Leu
XM_011533071.1:c.175A>T	XP_011531373.1:p.Ile59Leu
XM_011533072.1:c.175A>T	XP_011531374.1:p.Ile59Leu
XM_011533069.2:c.208A>T	XP_011531371.1:p.Ile70Leu
XM_011533072.2:c.175A>T	XP_011531374.1:p.Ile59Leu
NM_000348.4:c.430A>T MANE Select	NP_000339.2:p.Ile144Leu