Canonical Allele Identifier: CA767779162

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1553327749
• gnomAD v3: 2-31567433-G-GT
• gnomAD v4: 2-31567433-G-GT
• MyVariant Identifiers: chr2:g.31792503_31792504insT (hg19) ; chr2:g.31567433_31567434insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31567433_31567434insT , CM000664.2:g.31567433_31567434insT	GRCh38
NC_000002.11:g.31792503_31792504insT , CM000664.1:g.31792503_31792504insT	GRCh37
NC_000002.10:g.31646007_31646008insT	NCBI36
NG_008365.1:g.18538_18539insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+13186_281+13187insA MANE Select	ENSP00000477587.1:n.281+13186_281+13187insA
ENST00000622030.1:c.281+13186_281+13187insA	ENSP00000477587.1:n.281+13186_281+13187insA
NM_000348.3:c.281+13186_281+13187insA	NP_000339.2:n.281+13186_281+13187insA
XM_011533068.1:c.281+13186_281+13187insA	XP_011531370.1:n.281+13186_281+13187insA
XM_011533070.1:c.27-33668_27-33667insA	XP_011531372.1:n.27-33668_27-33667insA
XM_011533071.1:c.27-33668_27-33667insA	XP_011531373.1:n.27-33668_27-33667insA
XM_011533072.1:c.27-33668_27-33667insA	XP_011531374.1:n.27-33668_27-33667insA
XM_011533072.2:c.27-33668_27-33667insA	XP_011531374.1:n.27-33668_27-33667insA
NM_000348.4:c.281+13186_281+13187insA MANE Select	NP_000339.2:n.281+13186_281+13187insA