Canonical Allele Identifier: CA531712602

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1257323214
• gnomAD v2: 2-31756531-AT-A
• MyVariant Identifiers: chr2:g.31756532del (hg19) ; chr2:g.31531462del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531462del , CM000664.2:g.31531462del	GRCh38
NC_000002.11:g.31756532del , CM000664.1:g.31756532del	GRCh37
NC_000002.10:g.31610036del	NCBI36
NG_008365.1:g.54510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.456del MANE Select	ENSP00000477587.1:p.Leu152PhefsTer8
ENST00000622030.1:c.456del	ENSP00000477587.1:p.Leu152PhefsTer8
NM_000348.3:c.456del	NP_000339.2:p.Leu152PhefsTer8
XM_011533069.1:c.234del	XP_011531371.1:p.Leu78PhefsTer8
XM_011533070.1:c.201del	XP_011531372.1:p.Leu67PhefsTer8
XM_011533071.1:c.201del	XP_011531373.1:p.Leu67PhefsTer8
XM_011533072.1:c.201del	XP_011531374.1:p.Leu67PhefsTer8
XM_011533069.2:c.234del	XP_011531371.1:p.Leu78PhefsTer8
XM_011533072.2:c.201del	XP_011531374.1:p.Leu67PhefsTer8
NM_000348.4:c.456del MANE Select	NP_000339.2:p.Leu152PhefsTer8