Canonical Allele Identifier: CA6585383
Gene: KRT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 309597
ClinVar RCV Id: RCV000316776
dbSNP Id: rs141769548
ExAC: 12:53039004 G / A
gnomAD v2: 12-53039004-G-A
gnomAD v3: 12-52645220-G-A
gnomAD v4: 12-52645220-G-A
MyVariant Identifiers: chr12:g.53039004G>A (hg19) chr12:g.52645220G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52645220G>A , CM000674.2:g.52645220G>A GRCh38
NC_000012.11:g.53039004G>A , CM000674.1:g.53039004G>A GRCh37
NC_000012.10:g.51325271G>A NCBI36
NG_008296.1:g.11956C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.1719C>T MANE Select ENSP00000310861.3:p.Tyr573=
ENST00000309680.3:c.1719C>T ENSP00000310861.3:p.Tyr573=
NM_000423.2:c.1719C>T NP_000414.2:p.Tyr573=
NM_000423.3:c.1719C>T MANE Select NP_000414.2:p.Tyr573=
Search 100 bp 5'
Search 100 bp 3'