Canonical Allele Identifier: CA1581197872

Gene: SLC12A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186851_128186852delinsCT , CM000667.2:g.128186851_128186852delinsCT	GRCh38
NC_000005.9:g.127522543_127522544delinsCT , CM000667.1:g.127522543_127522544delinsCT	GRCh37
NC_000005.8:g.127550442_127550443delinsCT	NCBI36
NG_042286.1:g.108061_108062delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*220_*221delinsCT MANE Select	ENSP00000262461.2:n.*220_*221delinsCT
ENST00000262461.6:c.*220_*221delinsCT	ENSP00000262461.2:n.*220_*221delinsCT
ENST00000343225.4:c.*220_*221delinsCT	ENSP00000340878.4:n.*220_*221delinsCT
ENST00000509205.5:c.*472_*473delinsCT	ENSP00000427109.1:n.*472_*473delinsCT
NM_001046.2:c.*220_*221delinsCT	NP_001037.1:n.*220_*221delinsCT
NM_001256461.1:c.*220_*221delinsCT	NP_001243390.1:n.*220_*221delinsCT
NR_046207.1:n.4089_4090delinsCT
XM_017009771.1:c.*220_*221delinsCT	XP_016865260.1:n.*220_*221delinsCT
XR_001742214.1:n.4083_4084delinsCT
NM_001046.3:c.*220_*221delinsCT MANE Select	NP_001037.1:n.*220_*221delinsCT
NM_001256461.2:c.*220_*221delinsCT	NP_001243390.1:n.*220_*221delinsCT
NR_046207.2:n.4114_4115delinsCT