Canonical Allele Identifier: CA425568465
Gene: SRD5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2914830
ClinVar RCV Id: RCV003607127
gnomAD v2: 2-31758800-A-G
gnomAD v4: 2-31533730-A-G
MyVariant Identifiers: chr2:g.31758800A>G (hg19) chr2:g.31758800_31758801delinsGG (hg19) chr2:g.31533730_31533731delinsGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533730A>G , CM000664.2:g.31533730A>G GRCh38
NC_000002.11:g.31758800A>G , CM000664.1:g.31758800A>G GRCh37
NC_000002.10:g.31612304A>G NCBI36
NG_008365.1:g.52242T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.318T>C MANE Select ENSP00000477587.1:p.Pro106=
ENST00000622030.1:c.318T>C ENSP00000477587.1:p.Pro106=
NM_000348.3:c.318T>C NP_000339.2:p.Pro106=
XM_011533068.1:c.318T>C XP_011531370.1:p.Pro106=
XM_011533069.1:c.96T>C XP_011531371.1:p.Pro32=
XM_011533070.1:c.63T>C XP_011531372.1:p.Pro21=
XM_011533071.1:c.63T>C XP_011531373.1:p.Pro21=
XM_011533072.1:c.63T>C XP_011531374.1:p.Pro21=
XM_011533069.2:c.96T>C XP_011531371.1:p.Pro32=
XM_011533072.2:c.63T>C XP_011531374.1:p.Pro21=
NM_000348.4:c.318T>C MANE Select NP_000339.2:p.Pro106=
Search 100 bp 5'
Search 100 bp 3'