Canonical Allele Identifier: CA237244717

Gene: KRT2

Linked Data

• dbSNP Id: rs910875953
• gnomAD v3: 12-52652073-T-A
• gnomAD v4: 12-52652073-T-A
• MyVariant Identifiers: chr12:g.53045857T>A (hg19) ; chr12:g.52652073T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52652073T>A , CM000674.2:g.52652073T>A	GRCh38
NC_000012.11:g.53045857T>A , CM000674.1:g.53045857T>A	GRCh37
NC_000012.10:g.51332124T>A	NCBI36
NG_008296.1:g.5103A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309680.4:c.70A>T MANE Select	ENSP00000310861.3:p.Ser24Cys
ENST00000309680.3:c.70A>T	ENSP00000310861.3:p.Ser24Cys
NM_000423.2:c.70A>T	NP_000414.2:p.Ser24Cys
NM_000423.3:c.70A>T MANE Select	NP_000414.2:p.Ser24Cys