Canonical Allele Identifier: CA6585888

Gene: KRT2

Linked Data

• ClinVar Variation Id: 309623
• ClinVar RCV Id: RCV000320436
• dbSNP Id: rs2634041
• ExAC: 12:53045626 T / C
• gnomAD v2: 12-53045626-T-C
• gnomAD v3: 12-52651842-T-C
• gnomAD v4: 12-52651842-T-C
• MyVariant Identifiers: chr12:g.53045626T>C (hg19) ; chr12:g.52651842T>C (hg38)

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