Canonical Allele Identifier: CA425568499

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2728964
• ClinVar RCV Id: RCV003501585
• dbSNP Id: rs1168244767
• gnomAD v2: 2-31758815-G-A
• gnomAD v3: 2-31533745-G-A
• gnomAD v4: 2-31533745-G-A
• MyVariant Identifiers: chr2:g.31758815G>A (hg19) ; chr2:g.31533745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533745G>A , CM000664.2:g.31533745G>A	GRCh38
NC_000002.11:g.31758815G>A , CM000664.1:g.31758815G>A	GRCh37
NC_000002.10:g.31612319G>A	NCBI36
NG_008365.1:g.52227C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.303C>T MANE Select	ENSP00000477587.1:p.Leu101=
ENST00000622030.1:c.303C>T	ENSP00000477587.1:p.Leu101=
NM_000348.3:c.303C>T	NP_000339.2:p.Leu101=
XM_011533068.1:c.303C>T	XP_011531370.1:p.Leu101=
XM_011533069.1:c.81C>T	XP_011531371.1:p.Leu27=
XM_011533070.1:c.48C>T	XP_011531372.1:p.Leu16=
XM_011533071.1:c.48C>T	XP_011531373.1:p.Leu16=
XM_011533072.1:c.48C>T	XP_011531374.1:p.Leu16=
XM_011533069.2:c.81C>T	XP_011531371.1:p.Leu27=
XM_011533072.2:c.48C>T	XP_011531374.1:p.Leu16=
NM_000348.4:c.303C>T MANE Select	NP_000339.2:p.Leu101=