Canonical Allele Identifier: CA425568406

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31533706-T-C
• MyVariant Identifiers: chr2:g.31758776T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533706T>C , CM000664.2:g.31533706T>C	GRCh38
NC_000002.11:g.31758776T>C , CM000664.1:g.31758776T>C	GRCh37
NC_000002.10:g.31612280T>C	NCBI36
NG_008365.1:g.52266A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.342A>G MANE Select	ENSP00000477587.1:p.Arg114=
ENST00000622030.1:c.342A>G	ENSP00000477587.1:p.Arg114=
NM_000348.3:c.342A>G	NP_000339.2:p.Arg114=
XM_011533068.1:c.342A>G	XP_011531370.1:p.Arg114=
XM_011533069.1:c.120A>G	XP_011531371.1:p.Arg40=
XM_011533070.1:c.87A>G	XP_011531372.1:p.Arg29=
XM_011533071.1:c.87A>G	XP_011531373.1:p.Arg29=
XM_011533072.1:c.87A>G	XP_011531374.1:p.Arg29=
XM_011533069.2:c.120A>G	XP_011531371.1:p.Arg40=
XM_011533072.2:c.87A>G	XP_011531374.1:p.Arg29=
NM_000348.4:c.342A>G MANE Select	NP_000339.2:p.Arg114=