Canonical Allele Identifier: CA889660079
Community Standard Title: NM_173852.4(KRTCAP2):c.223+1095G>T
Gene: KRTCAP2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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