Canonical Allele Identifier: CA1599892

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 549758
• ClinVar RCV Id: RCV000664299
• dbSNP Id: rs574377752
• ExAC: 2:31754521 A / G
• gnomAD v2: 2-31754521-A-G
• gnomAD v3: 2-31529451-A-G
• gnomAD v4: 2-31529451-A-G
• MyVariant Identifiers: chr2:g.31754521A>G (hg19) ; chr2:g.31529451A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529451A>G , CM000664.2:g.31529451A>G	GRCh38
NC_000002.11:g.31754521A>G , CM000664.1:g.31754521A>G	GRCh37
NC_000002.10:g.31608025A>G	NCBI36
NG_008365.1:g.56521T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.554T>C MANE Select	ENSP00000477587.1:p.Leu185Ser
ENST00000622030.1:c.554T>C	ENSP00000477587.1:p.Leu185Ser
NM_000348.3:c.554T>C	NP_000339.2:p.Leu185Ser
XM_011533069.1:c.332T>C	XP_011531371.1:p.Leu111Ser
XM_011533070.1:c.299T>C	XP_011531372.1:p.Leu100Ser
XM_011533071.1:c.299T>C	XP_011531373.1:p.Leu100Ser
XM_011533072.1:c.299T>C	XP_011531374.1:p.Leu100Ser
XM_011533069.2:c.332T>C	XP_011531371.1:p.Leu111Ser
XM_011533072.2:c.299T>C	XP_011531374.1:p.Leu100Ser
NM_000348.4:c.554T>C MANE Select	NP_000339.2:p.Leu185Ser