Canonical Allele Identifier: CA224911
Gene: SRD5A2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31529459T>G
GRCh37 chr2:g.31754529T>G
gnomAD v2:
2:31754529 T / G
gnomAD v3:
2:31529459 T / G
gnomAD v4:
chr2-31529459-T-G
Joint Max Group AF 0.00005114 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00005165 (NFE)
ClinVar RCV:
RCV000083658
RCV000686310
ClinVar Variation:
97408
dbSNP:
61750397
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529459T>G , CM000664.2:g.31529459T>G GRCh38
NC_000002.11:g.31754529T>G , CM000664.1:g.31754529T>G GRCh37
NC_000002.10:g.31608033T>G NCBI36
NG_008365.1:g.56513A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.548-2A>C MANE Select ENSP00000477587.1:n.548-2A>C
ENST00000622030.1:c.548-2A>C ENSP00000477587.1:n.548-2A>C
NM_000348.3:c.548-2A>C NP_000339.2:n.548-2A>C
XM_011533069.1:c.326-2A>C XP_011531371.1:n.326-2A>C
XM_011533070.1:c.293-2A>C XP_011531372.1:n.293-2A>C
XM_011533071.1:c.293-2A>C XP_011531373.1:n.293-2A>C
XM_011533072.1:c.293-2A>C XP_011531374.1:n.293-2A>C
XM_011533069.2:c.326-2A>C XP_011531371.1:n.326-2A>C
XM_011533072.2:c.293-2A>C XP_011531374.1:n.293-2A>C
NM_000348.4:c.548-2A>C MANE Select NP_000339.2:n.548-2A>C
Search 100 bp 5'
Search 100 bp 3'