Canonical Allele Identifier: CA1581197770
Gene: SLC12A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128186753_128186754delinsTA , CM000667.2:g.128186753_128186754delinsTA GRCh38
NC_000005.9:g.127522445_127522446delinsTA , CM000667.1:g.127522445_127522446delinsTA GRCh37
NC_000005.8:g.127550344_127550345delinsTA NCBI36
NG_042286.1:g.107963_107964delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000262461.7:c.*122_*123delinsTA MANE Select ENSP00000262461.2:n.*122_*123delinsTA
ENST00000262461.6:c.*122_*123delinsTA ENSP00000262461.2:n.*122_*123delinsTA
ENST00000343225.4:c.*122_*123delinsTA ENSP00000340878.4:n.*122_*123delinsTA
ENST00000509205.5:c.*374_*375delinsTA ENSP00000427109.1:n.*374_*375delinsTA
NM_001046.2:c.*122_*123delinsTA NP_001037.1:n.*122_*123delinsTA
NM_001256461.1:c.*122_*123delinsTA NP_001243390.1:n.*122_*123delinsTA
NR_046207.1:n.3991_3992delinsTA
XM_017009771.1:c.*122_*123delinsTA XP_016865260.1:n.*122_*123delinsTA
XR_001742214.1:n.3985_3986delinsTA
NM_001046.3:c.*122_*123delinsTA MANE Select NP_001037.1:n.*122_*123delinsTA
NM_001256461.2:c.*122_*123delinsTA NP_001243390.1:n.*122_*123delinsTA
NR_046207.2:n.4016_4017delinsTA