Canonical Allele Identifier: CA6585450

Gene: KRT2

Linked Data

• ClinVar Variation Id: 309600
• ClinVar RCV Id: RCV000329737 ; RCV002056310
• dbSNP Id: rs142620105
• ExAC: 12:53039323 A / G
• gnomAD v2: 12-53039323-A-G
• gnomAD v3: 12-52645539-A-G
• gnomAD v4: 12-52645539-A-G
• MyVariant Identifiers: chr12:g.53039323A>G (hg19) ; chr12:g.52645539A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52645539A>G , CM000674.2:g.52645539A>G	GRCh38
NC_000012.11:g.53039323A>G , CM000674.1:g.53039323A>G	GRCh37
NC_000012.10:g.51325590A>G	NCBI36
NG_008296.1:g.11637T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.1500T>C MANE Select	ENSP00000310861.3:p.Thr500=
ENST00000309680.3:c.1500T>C	ENSP00000310861.3:p.Thr500=
NM_000423.2:c.1500T>C	NP_000414.2:p.Thr500=
NM_000423.3:c.1500T>C MANE Select	NP_000414.2:p.Thr500=