Canonical Allele Identifier: CA1581197862

Gene: SLC12A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128186847_128186849delinsTTC , CM000667.2:g.128186847_128186849delinsTTC	GRCh38
NC_000005.9:g.127522539_127522541delinsTTC , CM000667.1:g.127522539_127522541delinsTTC	GRCh37
NC_000005.8:g.127550438_127550440delinsTTC	NCBI36
NG_042286.1:g.108057_108059delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262461.7:c.*216_*218delinsTTC MANE Select	ENSP00000262461.2:n.*216_*218delinsTTC
ENST00000262461.6:c.*216_*218delinsTTC	ENSP00000262461.2:n.*216_*218delinsTTC
ENST00000343225.4:c.*216_*218delinsTTC	ENSP00000340878.4:n.*216_*218delinsTTC
ENST00000509205.5:c.*468_*470delinsTTC	ENSP00000427109.1:n.*468_*470delinsTTC
NM_001046.2:c.*216_*218delinsTTC	NP_001037.1:n.*216_*218delinsTTC
NM_001256461.1:c.*216_*218delinsTTC	NP_001243390.1:n.*216_*218delinsTTC
NR_046207.1:n.4085_4087delinsTTC
XM_017009771.1:c.*216_*218delinsTTC	XP_016865260.1:n.*216_*218delinsTTC
XR_001742214.1:n.4079_4081delinsTTC
NM_001046.3:c.*216_*218delinsTTC MANE Select	NP_001037.1:n.*216_*218delinsTTC
NM_001256461.2:c.*216_*218delinsTTC	NP_001243390.1:n.*216_*218delinsTTC
NR_046207.2:n.4110_4112delinsTTC