Canonical Allele Identifier: CA384946417
Gene: KRT2 HGNC NCBI

Linked Data

gnomAD v4: 12-52652117-G-C
MyVariant Identifiers: chr12:g.53045901G>C (hg19) chr12:g.52652117G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52652117G>C , CM000674.2:g.52652117G>C GRCh38
NC_000012.11:g.53045901G>C , CM000674.1:g.53045901G>C GRCh37
NC_000012.10:g.51332168G>C NCBI36
NG_008296.1:g.5059C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.26C>G MANE Select ENSP00000310861.3:p.Ser9Cys
ENST00000309680.3:c.26C>G ENSP00000310861.3:p.Ser9Cys
NM_000423.2:c.26C>G NP_000414.2:p.Ser9Cys
NM_000423.3:c.26C>G MANE Select NP_000414.2:p.Ser9Cys
Search 100 bp 5'
Search 100 bp 3'