Canonical Allele Identifier: CA650269877
Gene: SLC12A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128186684_128186685insC , CM000667.2:g.128186684_128186685insC GRCh38
NC_000005.9:g.127522376_127522377insC , CM000667.1:g.127522376_127522377insC GRCh37
NC_000005.8:g.127550275_127550276insC NCBI36
NG_042286.1:g.107894_107895insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000262461.7:c.*53_*54insC MANE Select ENSP00000262461.2:n.*53_*54insC
ENST00000262461.6:c.*53_*54insC ENSP00000262461.2:n.*53_*54insC
ENST00000343225.4:c.*53_*54insC ENSP00000340878.4:n.*53_*54insC
ENST00000509205.5:c.*305_*306insC ENSP00000427109.1:n.*305_*306insC
NM_001046.2:c.*53_*54insC NP_001037.1:n.*53_*54insC
NM_001256461.1:c.*53_*54insC NP_001243390.1:n.*53_*54insC
NR_046207.1:n.3922_3923insC
XM_017009771.1:c.*53_*54insC XP_016865260.1:n.*53_*54insC
XR_001742214.1:n.3916_3917insC
NM_001046.3:c.*53_*54insC MANE Select NP_001037.1:n.*53_*54insC
NM_001256461.2:c.*53_*54insC NP_001243390.1:n.*53_*54insC
NR_046207.2:n.3947_3948insC