Canonical Allele Identifier: CA51501769
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

dbSNP Id: rs554170587
gnomAD v2: 2-89159020-A-G
gnomAD v3: 2-88859508-A-G
gnomAD v4: 2-88859508-A-G
MyVariant Identifiers: chr2:g.89159020A>G (hg19) chr2:g.88859508A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859508A>G , CM000664.2:g.88859508A>G GRCh38
NC_000002.11:g.89159020A>G , CM000664.1:g.89159020A>G GRCh37
NC_000002.10:g.88940135A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-1825T>C (IGKV1-12) ENSP00000480537.2:n.389-1825T>C
ENST00000430694.5:c.37+1378T>C (IGKC) ENSP00000481923.2:n.37+1378T>C
ENST00000610638.3:c.398-1825T>C (IGKC) ENSP00000484499.3:n.398-1825T>C
ENST00000634828.1:c.383-1825T>C (IGKV1-8) ENSP00000489500.1:n.383-1825T>C
Search 100 bp 5'
Search 100 bp 3'