Canonical Allele Identifier: CA6585963

Gene: KRT2

Linked Data

• dbSNP Id: rs774509084
• ExAC: 12:53045802 CAGG / C
• gnomAD v2: 12-53045802-CAGG-C
• gnomAD v4: 12-52652018-CAGG-C
• MyVariant Identifiers: chr12:g.53045803_53045805del (hg19) ; chr12:g.52652019_52652021del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52652021_52652023del , CM000674.2:g.52652021_52652023del	GRCh38
NC_000012.11:g.53045805_53045807del , CM000674.1:g.53045805_53045807del	GRCh37
NC_000012.10:g.51332072_51332074del	NCBI36
NG_008296.1:g.5155_5157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.122_124del MANE Select	ENSP00000310861.3:p.Ser41del
ENST00000309680.3:c.122_124del	ENSP00000310861.3:p.Ser41del
NM_000423.2:c.122_124del	NP_000414.2:p.Ser41del
NM_000423.3:c.122_124del MANE Select	NP_000414.2:p.Ser41del