Canonical Allele Identifier: CA346598155

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2810971
• ClinVar RCV Id: RCV003607838
• MyVariant Identifiers: chr2:g.31756440C>G (hg19) ; chr2:g.31531370C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531370C>G , CM000664.2:g.31531370C>G	GRCh38
NC_000002.11:g.31756440C>G , CM000664.1:g.31756440C>G	GRCh37
NC_000002.10:g.31609944C>G	NCBI36
NG_008365.1:g.54602G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.547+1G>C MANE Select	ENSP00000477587.1:n.547+1G>C
ENST00000622030.1:c.547+1G>C	ENSP00000477587.1:n.547+1G>C
NM_000348.3:c.547+1G>C	NP_000339.2:n.547+1G>C
XM_011533069.1:c.325+1G>C	XP_011531371.1:n.325+1G>C
XM_011533070.1:c.292+1G>C	XP_011531372.1:n.292+1G>C
XM_011533071.1:c.292+1G>C	XP_011531373.1:n.292+1G>C
XM_011533072.1:c.292+1G>C	XP_011531374.1:n.292+1G>C
XM_011533069.2:c.325+1G>C	XP_011531371.1:n.325+1G>C
XM_011533072.2:c.292+1G>C	XP_011531374.1:n.292+1G>C
NM_000348.4:c.547+1G>C MANE Select	NP_000339.2:n.547+1G>C