Canonical Allele Identifier: CA2618946391
Gene: KRT2 HGNC NCBI

Linked Data

gnomAD v4: 12-52651990-C-CCCA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52651992_52651993insACC , CM000674.2:g.52651992_52651993insACC GRCh38
NC_000012.11:g.53045776_53045777insACC , CM000674.1:g.53045776_53045777insACC GRCh37
NC_000012.10:g.51332043_51332044insACC NCBI36
NG_008296.1:g.5185_5186insTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.152_153insTGG MANE Select ENSP00000310861.3:p.Gly51_Gly52insGly
ENST00000309680.3:c.152_153insTGG ENSP00000310861.3:p.Gly51_Gly52insGly
NM_000423.2:c.152_153insTGG NP_000414.2:p.Gly51_Gly52insGly
NM_000423.3:c.152_153insTGG MANE Select NP_000414.2:p.Gly51_Gly52insGly
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