Canonical Allele Identifier: CA1581197774

Gene: SLC12A2

Linked Data

• dbSNP Id: rs1763882840
• gnomAD v4: 5-128186753-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186755del , CM000667.2:g.128186755del	GRCh38
NC_000005.9:g.127522447del , CM000667.1:g.127522447del	GRCh37
NC_000005.8:g.127550346del	NCBI36
NG_042286.1:g.107965del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262461.7:c.*124del MANE Select	ENSP00000262461.2:n.*124del
ENST00000262461.6:c.*124del	ENSP00000262461.2:n.*124del
ENST00000343225.4:c.*124del	ENSP00000340878.4:n.*124del
ENST00000509205.5:c.*376del	ENSP00000427109.1:n.*376del
NM_001046.2:c.*124del	NP_001037.1:n.*124del
NM_001256461.1:c.*124del	NP_001243390.1:n.*124del
NR_046207.1:n.3993del
XM_017009771.1:c.*124del	XP_016865260.1:n.*124del
XR_001742214.1:n.3987del
NM_001046.3:c.*124del MANE Select	NP_001037.1:n.*124del
NM_001256461.2:c.*124del	NP_001243390.1:n.*124del
NR_046207.2:n.4018del