Canonical Allele Identifier: CA605241214
Gene: KRT2 HGNC NCBI

Linked Data

dbSNP Id: rs1482148948
gnomAD v2: 12-53045931-C-G
gnomAD v4: 12-52652147-C-G
MyVariant Identifiers: chr12:g.53045931C>G (hg19) chr12:g.52652147C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52652147C>G , CM000674.2:g.52652147C>G GRCh38
NC_000012.11:g.53045931C>G , CM000674.1:g.53045931C>G GRCh37
NC_000012.10:g.51332198C>G NCBI36
NG_008296.1:g.5029G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.-5G>C MANE Select ENSP00000310861.3:n.-5G>C
ENST00000309680.3:c.-5G>C ENSP00000310861.3:n.-5G>C
NM_000423.2:c.-5G>C NP_000414.2:n.-5G>C
NM_000423.3:c.-5G>C MANE Select NP_000414.2:n.-5G>C
Search 100 bp 5'
Search 100 bp 3'