Canonical Allele Identifier: CA45136775

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2916083
• ClinVar RCV Id: RCV003607145
• dbSNP Id: rs963617915
• gnomAD v2: 2-31758655-G-T
• gnomAD v3: 2-31533585-G-T
• gnomAD v4: 2-31533585-G-T
• MyVariant Identifiers: chr2:g.31758655G>T (hg19) ; chr2:g.31533585G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533585G>T , CM000664.2:g.31533585G>T	GRCh38
NC_000002.11:g.31758655G>T , CM000664.1:g.31758655G>T	GRCh37
NC_000002.10:g.31612159G>T	NCBI36
NG_008365.1:g.52387C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.445+18C>A MANE Select	ENSP00000477587.1:n.445+18C>A
ENST00000622030.1:c.445+18C>A	ENSP00000477587.1:n.445+18C>A
NM_000348.3:c.445+18C>A	NP_000339.2:n.445+18C>A
XM_011533068.1:c.445+18C>A	XP_011531370.1:n.445+18C>A
XM_011533069.1:c.223+18C>A	XP_011531371.1:n.223+18C>A
XM_011533070.1:c.190+18C>A	XP_011531372.1:n.190+18C>A
XM_011533071.1:c.190+18C>A	XP_011531373.1:n.190+18C>A
XM_011533072.1:c.190+18C>A	XP_011531374.1:n.190+18C>A
XM_011533069.2:c.223+18C>A	XP_011531371.1:n.223+18C>A
XM_011533072.2:c.190+18C>A	XP_011531374.1:n.190+18C>A
NM_000348.4:c.445+18C>A MANE Select	NP_000339.2:n.445+18C>A