Canonical Allele Identifier: CA605241217
Gene: KRT2 HGNC NCBI

Linked Data

dbSNP Id: rs1476493728
gnomAD v2: 12-53045942-G-A
MyVariant Identifiers: chr12:g.53045942G>A (hg19) chr12:g.52652158G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52652158G>A , CM000674.2:g.52652158G>A GRCh38
NC_000012.11:g.53045942G>A , CM000674.1:g.53045942G>A GRCh37
NC_000012.10:g.51332209G>A NCBI36
NG_008296.1:g.5018C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.-16C>T MANE Select ENSP00000310861.3:n.-16C>T
ENST00000309680.3:c.-16C>T ENSP00000310861.3:n.-16C>T
NM_000423.2:c.-16C>T NP_000414.2:n.-16C>T
NM_000423.3:c.-16C>T MANE Select NP_000414.2:n.-16C>T
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