Canonical Allele Identifier: CA2675110073
Gene: SLC12A2 HGNC NCBI

Linked Data

gnomAD v4: 5-128186788-T-TA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128186790dup , CM000667.2:g.128186790dup GRCh38
NC_000005.9:g.127522482dup , CM000667.1:g.127522482dup GRCh37
NC_000005.8:g.127550381dup NCBI36
NG_042286.1:g.108000dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262461.7:c.*159dup MANE Select ENSP00000262461.2:n.*159dup
ENST00000262461.6:c.*159dup ENSP00000262461.2:n.*159dup
ENST00000343225.4:c.*159dup ENSP00000340878.4:n.*159dup
ENST00000509205.5:c.*411dup ENSP00000427109.1:n.*411dup
NM_001046.2:c.*159dup NP_001037.1:n.*159dup
NM_001256461.1:c.*159dup NP_001243390.1:n.*159dup
NR_046207.1:n.4028dup
XM_017009771.1:c.*159dup XP_016865260.1:n.*159dup
XR_001742214.1:n.4022dup
NM_001046.3:c.*159dup MANE Select NP_001037.1:n.*159dup
NM_001256461.2:c.*159dup NP_001243390.1:n.*159dup
NR_046207.2:n.4053dup
Search 100 bp 5'
Search 100 bp 3'