Canonical Allele Identifier: CA51502502
Gene: IGKV1-12 HGNC NCBI
IGKC HGNC NCBI
IGKV1-8 HGNC NCBI

Linked Data

dbSNP Id: rs544046602
gnomAD v3: 2-88859748-G-A
gnomAD v4: 2-88859748-G-A
COSMIC: COSN4808423 COSN19189359 COSN23108604
MyVariant Identifiers: chr2:g.89159260G>A (hg19) chr2:g.88859748G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88859748G>A , CM000664.2:g.88859748G>A GRCh38
NC_000002.11:g.89159260G>A , CM000664.1:g.89159260G>A GRCh37
NC_000002.10:g.88940375G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377423.6:c.389-2065C>T (IGKV1-12) ENSP00000480537.2:n.389-2065C>T
ENST00000430694.5:c.37+1138C>T (IGKC) ENSP00000481923.2:n.37+1138C>T
ENST00000610638.3:c.397+1777C>T (IGKC) ENSP00000484499.3:n.397+1777C>T
ENST00000634828.1:c.382+1777C>T (IGKV1-8) ENSP00000489500.1:n.382+1777C>T
Search 100 bp 5'
Search 100 bp 3'