Canonical Allele Identifier: CA2036598300
Gene: KRT2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651831_52651849delinsACCTCCAAAGCTGCTGCCG , CM000674.2:g.52651831_52651849delinsACCTCCAAAGCTGCTGCCG GRCh38
NC_000012.11:g.53045615_53045633delinsACCTCCAAAGCTGCTGCCG , CM000674.1:g.53045615_53045633delinsACCTCCAAAGCTGCTGCCG GRCh37
NC_000012.10:g.51331882_51331900delinsACCTCCAAAGCTGCTGCCG NCBI36
NG_008296.1:g.5327_5345delinsCGGCAGCAGCTTTGGAGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.294_312delinsCGGCAGCAGCTTTGGAGGT MANE Select ENSP00000310861.3:p.Gly98=
ENST00000309680.3:c.294_312delinsCGGCAGCAGCTTTGGAGGT ENSP00000310861.3:p.Gly98=
NM_000423.2:c.294_312delinsCGGCAGCAGCTTTGGAGGT NP_000414.2:p.Gly98=
NM_000423.3:c.294_312delinsCGGCAGCAGCTTTGGAGGT MANE Select NP_000414.2:p.Gly98=
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