Canonical Allele Identifier: CA51502004
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

dbSNP Id: rs561184973
gnomAD v2: 2-89159096-T-C
gnomAD v3: 2-88859584-T-C
gnomAD v4: 2-88859584-T-C
MyVariant Identifiers: chr2:g.89159096T>C (hg19) chr2:g.88859584T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859584T>C , CM000664.2:g.88859584T>C GRCh38
NC_000002.11:g.89159096T>C , CM000664.1:g.89159096T>C GRCh37
NC_000002.10:g.88940211T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-1901A>G (IGKV1-12) ENSP00000480537.2:n.389-1901A>G
ENST00000430694.5:c.37+1302A>G (IGKC) ENSP00000481923.2:n.37+1302A>G
ENST00000610638.3:c.398-1901A>G (IGKC) ENSP00000484499.3:n.398-1901A>G
ENST00000634828.1:c.383-1901A>G (IGKV1-8) ENSP00000489500.1:n.383-1901A>G
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