Canonical Allele Identifier: CA45136277
Community Standard Title: NM_000348.4(SRD5A2):c.698+281T>C
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529026A>G , CM000664.2:g.31529026A>G GRCh38
NC_000002.11:g.31754096A>G , CM000664.1:g.31754096A>G GRCh37
NC_000002.10:g.31607600A>G NCBI36
NG_008365.1:g.56946T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000348.4:c.698+281T>C MANE Select NP_000339.2:n.698+281T>C
ENST00000622030.2:c.698+281T>C MANE Select ENSP00000477587.1:n.698+281T>C
NM_000348.3:c.698+281T>C NP_000339.2:n.698+281T>C
ENST00000622030.1:c.698+281T>C ENSP00000477587.1:n.698+281T>C
XM_011533069.1:c.476+281T>C XP_011531371.1:n.476+281T>C
XM_011533069.2:c.476+281T>C XP_011531371.1:n.476+281T>C
XM_011533070.1:c.443+281T>C XP_011531372.1:n.443+281T>C
XM_011533071.1:c.443+281T>C XP_011531373.1:n.443+281T>C
XM_011533072.1:c.443+281T>C XP_011531374.1:n.443+281T>C
XM_011533072.2:c.443+281T>C XP_011531374.1:n.443+281T>C