Canonical Allele Identifier: CA384944931
Gene: KRT2 HGNC NCBI

Linked Data

dbSNP Id: rs1271102595
gnomAD v2: 12-53045736-A-G
gnomAD v4: 12-52651952-A-G
MyVariant Identifiers: chr12:g.53045736A>G (hg19) chr12:g.52651952A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651952A>G , CM000674.2:g.52651952A>G GRCh38
NC_000012.11:g.53045736A>G , CM000674.1:g.53045736A>G GRCh37
NC_000012.10:g.51332003A>G NCBI36
NG_008296.1:g.5224T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.191T>C MANE Select ENSP00000310861.3:p.Val64Ala
ENST00000309680.3:c.191T>C ENSP00000310861.3:p.Val64Ala
NM_000423.2:c.191T>C NP_000414.2:p.Val64Ala
NM_000423.3:c.191T>C MANE Select NP_000414.2:p.Val64Ala
Search 100 bp 5'
Search 100 bp 3'