Canonical Allele Identifier: CA6585326
Gene: KRT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 309593
ClinVar RCV Id: RCV000398014
dbSNP Id: rs2232563
ExAC: 12:53038761 A / G
gnomAD v2: 12-53038761-A-G
gnomAD v3: 12-52644977-A-G
gnomAD v4: 12-52644977-A-G
MyVariant Identifiers: chr12:g.53038761A>G (hg19) chr12:g.52644977A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52644977A>G , CM000674.2:g.52644977A>G GRCh38
NC_000012.11:g.53038761A>G , CM000674.1:g.53038761A>G GRCh37
NC_000012.10:g.51325028A>G NCBI36
NG_008296.1:g.12199T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.*42T>C MANE Select ENSP00000310861.3:n.*42T>C
ENST00000309680.3:c.*42T>C ENSP00000310861.3:n.*42T>C
NM_000423.2:c.*42T>C NP_000414.2:n.*42T>C
NM_000423.3:c.*42T>C MANE Select NP_000414.2:n.*42T>C
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