Canonical Allele Identifier: CA384945971
Gene: KRT2 HGNC NCBI

Linked Data

dbSNP Id: rs1265452262
gnomAD v2: 12-53045860-T-C
gnomAD v4: 12-52652076-T-C
MyVariant Identifiers: chr12:g.53045860T>C (hg19) chr12:g.52652076T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52652076T>C , CM000674.2:g.52652076T>C GRCh38
NC_000012.11:g.53045860T>C , CM000674.1:g.53045860T>C GRCh37
NC_000012.10:g.51332127T>C NCBI36
NG_008296.1:g.5100A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000309680.4:c.67A>G MANE Select ENSP00000310861.3:p.Ser23Gly
ENST00000309680.3:c.67A>G ENSP00000310861.3:p.Ser23Gly
NM_000423.2:c.67A>G NP_000414.2:p.Ser23Gly
NM_000423.3:c.67A>G MANE Select NP_000414.2:p.Ser23Gly
Search 100 bp 5'
Search 100 bp 3'