Canonical Allele Identifier: CA605241198
Gene: KRT2 HGNC NCBI

Linked Data

dbSNP Id: rs1259850489
gnomAD v2: 12-53045615-ACCTCCAAAGCTGCTGCCG-A
gnomAD v3: 12-52651831-ACCTCCAAAGCTGCTGCCG-A
gnomAD v4: 12-52651831-ACCTCCAAAGCTGCTGCCG-A
MyVariant Identifiers: chr12:g.53045616_53045633del (hg19) chr12:g.52651832_52651849del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651840_52651857del , CM000674.2:g.52651840_52651857del GRCh38
NC_000012.11:g.53045624_53045641del , CM000674.1:g.53045624_53045641del GRCh37
NC_000012.10:g.51331891_51331908del NCBI36
NG_008296.1:g.5327_5344del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.294_311del MANE Select ENSP00000310861.3:p.Gly99_Gly104del
ENST00000309680.3:c.294_311del ENSP00000310861.3:p.Gly99_Gly104del
NM_000423.2:c.294_311del NP_000414.2:p.Gly99_Gly104del
NM_000423.3:c.294_311del MANE Select NP_000414.2:p.Gly99_Gly104del
Search 100 bp 5'
Search 100 bp 3'