Canonical Allele Identifier: CA480073149
Gene: KRT2 HGNC NCBI

Linked Data

dbSNP Id: rs1271966818
gnomAD v2: 12-53045744-C-A
MyVariant Identifiers: chr12:g.53045744C>A (hg19) chr12:g.52651960C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651960C>A , CM000674.2:g.52651960C>A GRCh38
NC_000012.11:g.53045744C>A , CM000674.1:g.53045744C>A GRCh37
NC_000012.10:g.51332011C>A NCBI36
NG_008296.1:g.5216G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.183G>T MANE Select ENSP00000310861.3:p.Arg61=
ENST00000309680.3:c.183G>T ENSP00000310861.3:p.Arg61=
NM_000423.2:c.183G>T NP_000414.2:p.Arg61=
NM_000423.3:c.183G>T MANE Select NP_000414.2:p.Arg61=
Search 100 bp 5'
Search 100 bp 3'