Canonical Allele Identifier: CA10848447
Gene: KRTCAP2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155171470C>T , CM000663.2:g.155171470C>T GRCh38
NC_000001.10:g.155143946C>T , CM000663.1:g.155143946C>T GRCh37
NC_000001.9:g.153410570C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295682.6:c.223+1095G>A MANE Select ENSP00000295682.5:n.223+1095G>A
ENST00000473363.3:c.534+1095G>A ENSP00000477381.3:n.534+1095G>A
ENST00000490672.2:n.1432G>A
ENST00000295682.4:c.301+1095G>A ENSP00000295682.4:n.301+1095G>A
ENST00000461136.5:n.113+1095G>A
ENST00000463527.5:n.243+881G>A
ENST00000471891.5:n.359+1095G>A
ENST00000473363.2:c.534+1095G>A
ENST00000482246.5:n.203+1268G>A
ENST00000487350.5:n.565+1095G>A
ENST00000490672.1:n.1433G>A
ENST00000491084.5:n.378+1095G>A
ENST00000492892.1:n.272+1095G>A
ENST00000497317.5:n.253+1095G>A
NM_173852.3:c.301+1095G>A NP_776251.1:n.301+1095G>A
NM_173852.4:c.223+1095G>A MANE Select NP_776251.2:n.223+1095G>A