Canonical Allele Identifier: CA51502584
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

dbSNP Id: rs182335963
gnomAD v2: 2-89159289-A-G
gnomAD v3: 2-88859777-A-G
gnomAD v4: 2-88859777-A-G
COSMIC: COSN23109132
MyVariant Identifiers: chr2:g.89159289A>G (hg19) chr2:g.88859777A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859777A>G , CM000664.2:g.88859777A>G GRCh38
NC_000002.11:g.89159289A>G , CM000664.1:g.89159289A>G GRCh37
NC_000002.10:g.88940404A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-2094T>C (IGKV1-12) ENSP00000480537.2:n.389-2094T>C
ENST00000430694.5:c.37+1109T>C (IGKC) ENSP00000481923.2:n.37+1109T>C
ENST00000610638.3:c.397+1748T>C (IGKC) ENSP00000484499.3:n.397+1748T>C
ENST00000634828.1:c.382+1748T>C (IGKV1-8) ENSP00000489500.1:n.382+1748T>C
Search 100 bp 5'
Search 100 bp 3'