Canonical Allele Identifier: CA6585888
Gene: KRT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 309623
dbSNP Id: rs2634041

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651842T>C , CM000674.2:g.52651842T>C GRCh38
NC_000012.11:g.53045626T>C , CM000674.1:g.53045626T>C GRCh37
NC_000012.10:g.51331893T>C NCBI36
NG_008296.1:g.5334A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.301A>G MANE Select ENSP00000310861.3:p.Ser101Gly
ENST00000309680.3:c.301A>G ENSP00000310861.3:p.Ser101Gly
NM_000423.2:c.301A>G NP_000414.2:p.Ser101Gly
NM_000423.3:c.301A>G MANE Select NP_000414.2:p.Ser101Gly