Canonical Allele Identifier: CA384945117
Gene: KRT2 HGNC NCBI

Linked Data

dbSNP Id: rs1242487698
gnomAD v2: 12-53045757-C-G
gnomAD v4: 12-52651973-C-G
MyVariant Identifiers: chr12:g.53045757C>G (hg19) chr12:g.52651973C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651973C>G , CM000674.2:g.52651973C>G GRCh38
NC_000012.11:g.53045757C>G , CM000674.1:g.53045757C>G GRCh37
NC_000012.10:g.51332024C>G NCBI36
NG_008296.1:g.5203G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.170G>C MANE Select ENSP00000310861.3:p.Gly57Ala
ENST00000309680.3:c.170G>C ENSP00000310861.3:p.Gly57Ala
NM_000423.2:c.170G>C NP_000414.2:p.Gly57Ala
NM_000423.3:c.170G>C MANE Select NP_000414.2:p.Gly57Ala
Search 100 bp 5'
Search 100 bp 3'