Canonical Allele Identifier: CA1599899

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 1294244
• ClinVar RCV Id: RCV001716115
• dbSNP Id: rs374815795
• ExAC: 2:31754544 C / A
• gnomAD v2: 2-31754544-C-A
• gnomAD v4: 2-31529474-C-A
• MyVariant Identifiers: chr2:g.31754544C>A (hg19) ; chr2:g.31529474C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529474C>A , CM000664.2:g.31529474C>A	GRCh38
NC_000002.11:g.31754544C>A , CM000664.1:g.31754544C>A	GRCh37
NC_000002.10:g.31608048C>A	NCBI36
NG_008365.1:g.56498G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.548-17G>T MANE Select	ENSP00000477587.1:n.548-17G>T
ENST00000622030.1:c.548-17G>T	ENSP00000477587.1:n.548-17G>T
NM_000348.3:c.548-17G>T	NP_000339.2:n.548-17G>T
XM_011533069.1:c.326-17G>T	XP_011531371.1:n.326-17G>T
XM_011533070.1:c.293-17G>T	XP_011531372.1:n.293-17G>T
XM_011533071.1:c.293-17G>T	XP_011531373.1:n.293-17G>T
XM_011533072.1:c.293-17G>T	XP_011531374.1:n.293-17G>T
XM_011533069.2:c.326-17G>T	XP_011531371.1:n.326-17G>T
XM_011533072.2:c.293-17G>T	XP_011531374.1:n.293-17G>T
NM_000348.4:c.548-17G>T MANE Select	NP_000339.2:n.548-17G>T