Canonical Allele Identifier: CA51502672
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

dbSNP Id: rs565253702
gnomAD v2: 2-89159304-A-G
gnomAD v3: 2-88859792-A-G
gnomAD v4: 2-88859792-A-G
COSMIC: COSN25544320
MyVariant Identifiers: chr2:g.89159304A>G (hg19) chr2:g.88859792A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859792A>G , CM000664.2:g.88859792A>G GRCh38
NC_000002.11:g.89159304A>G , CM000664.1:g.89159304A>G GRCh37
NC_000002.10:g.88940419A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.388+2094T>C (IGKV1-12) ENSP00000480537.2:n.388+2094T>C
ENST00000430694.5:c.37+1094T>C (IGKC) ENSP00000481923.2:n.37+1094T>C
ENST00000610638.3:c.397+1733T>C (IGKC) ENSP00000484499.3:n.397+1733T>C
ENST00000634828.1:c.382+1733T>C (IGKV1-8) ENSP00000489500.1:n.382+1733T>C
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