Canonical Allele Identifier: CA2675110097

Gene: SLC12A2

Linked Data

• gnomAD v4: 5-128186825-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186828_128186829del , CM000667.2:g.128186828_128186829del	GRCh38
NC_000005.9:g.127522520_127522521del , CM000667.1:g.127522520_127522521del	GRCh37
NC_000005.8:g.127550419_127550420del	NCBI36
NG_042286.1:g.108038_108039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*197_*198del MANE Select	ENSP00000262461.2:n.*197_*198del
ENST00000262461.6:c.*197_*198del	ENSP00000262461.2:n.*197_*198del
ENST00000343225.4:c.*197_*198del	ENSP00000340878.4:n.*197_*198del
ENST00000509205.5:c.*449_*450del	ENSP00000427109.1:n.*449_*450del
NM_001046.2:c.*197_*198del	NP_001037.1:n.*197_*198del
NM_001256461.1:c.*197_*198del	NP_001243390.1:n.*197_*198del
NR_046207.1:n.4066_4067del
XM_017009771.1:c.*197_*198del	XP_016865260.1:n.*197_*198del
XR_001742214.1:n.4060_4061del
NM_001046.3:c.*197_*198del MANE Select	NP_001037.1:n.*197_*198del
NM_001256461.2:c.*197_*198del	NP_001243390.1:n.*197_*198del
NR_046207.2:n.4091_4092del