Canonical Allele Identifier: CA2618946350
Gene: KRT2 HGNC NCBI

Linked Data

gnomAD v4: 12-52651847-C-CCGCCTCCAAAGCCGCTG
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651857_52651858insGCCGCTGCGCCTCCAAA , CM000674.2:g.52651857_52651858insGCCGCTGCGCCTCCAAA GRCh38
NC_000012.11:g.53045641_53045642insGCCGCTGCGCCTCCAAA , CM000674.1:g.53045641_53045642insGCCGCTGCGCCTCCAAA GRCh37
NC_000012.10:g.51331908_51331909insGCCGCTGCGCCTCCAAA NCBI36
NG_008296.1:g.5328_5329insCAGCGGCTTTGGAGGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.295_296insCAGCGGCTTTGGAGGCG MANE Select ENSP00000310861.3:p.Gly99AlafsTer?
ENST00000309680.3:c.295_296insCAGCGGCTTTGGAGGCG ENSP00000310861.3:p.Gly99AlafsTer?
NM_000423.2:c.295_296insCAGCGGCTTTGGAGGCG NP_000414.2:p.Gly99AlafsTer?
NM_000423.3:c.295_296insCAGCGGCTTTGGAGGCG MANE Select NP_000414.2:p.Gly99AlafsTer?
Search 100 bp 5'
Search 100 bp 3'