Canonical Allele Identifier: CA531769380

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1209001607
• gnomAD v2: 2-31758575-A-G
• gnomAD v3: 2-31533505-A-G
• gnomAD v4: 2-31533505-A-G
• MyVariant Identifiers: chr2:g.31758575A>G (hg19) ; chr2:g.31533505A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533505A>G , CM000664.2:g.31533505A>G	GRCh38
NC_000002.11:g.31758575A>G , CM000664.1:g.31758575A>G	GRCh37
NC_000002.10:g.31612079A>G	NCBI36
NG_008365.1:g.52467T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.445+98T>C MANE Select	ENSP00000477587.1:n.445+98T>C
ENST00000622030.1:c.445+98T>C	ENSP00000477587.1:n.445+98T>C
NM_000348.3:c.445+98T>C	NP_000339.2:n.445+98T>C
XM_011533068.1:c.445+98T>C	XP_011531370.1:n.445+98T>C
XM_011533069.1:c.223+98T>C	XP_011531371.1:n.223+98T>C
XM_011533070.1:c.190+98T>C	XP_011531372.1:n.190+98T>C
XM_011533071.1:c.190+98T>C	XP_011531373.1:n.190+98T>C
XM_011533072.1:c.190+98T>C	XP_011531374.1:n.190+98T>C
XM_011533069.2:c.223+98T>C	XP_011531371.1:n.223+98T>C
XM_011533072.2:c.190+98T>C	XP_011531374.1:n.190+98T>C
NM_000348.4:c.445+98T>C MANE Select	NP_000339.2:n.445+98T>C