Canonical Allele Identifier: CA1192534963
Gene: NOTCH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119975271_119975272delinsTG , CM000663.2:g.119975271_119975272delinsTG GRCh38
NC_000001.10:g.120517894_120517895delinsTG , CM000663.1:g.120517894_120517895delinsTG GRCh37
NC_000001.9:g.120319417_120319418delinsTG NCBI36
NG_008163.1:g.99382_99383delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.875-5528_875-5527delinsCA MANE Select ENSP00000256646.2:n.875-5528_875-5527deli...
ENST00000640021.1:c.94+1078_94+1079delinsCA ENSP00000492223.1:n.94+1078_94+1079delins...
ENST00000256646.6:c.875-5528_875-5527delinsCA ENSP00000256646.2:n.875-5528_875-5527deli...
ENST00000479412.2:n.1013-5528_1013-5527delinsCA
ENST00000579475.7:c.758-5528_758-5527delinsCA ENSP00000477065.2:n.758-5528_758-5527deli...
NM_001200001.1:c.875-5528_875-5527delinsCA NP_001186930.1:n.875-5528_875-5527delinsC...
NM_024408.3:c.875-5528_875-5527delinsCA NP_077719.2:n.875-5528_875-5527delinsCA
XM_005270901.2:c.758-5528_758-5527delinsCA XP_005270958.1:n.758-5528_758-5527delinsC...
XM_011541519.1:c.863-5528_863-5527delinsCA XP_011539821.1:n.863-5528_863-5527delinsC...
XM_011541520.1:c.758-5528_758-5527delinsCA XP_011539822.1:n.758-5528_758-5527delinsC...
NM_024408.4:c.875-5528_875-5527delinsCA MANE Select NP_077719.2:n.875-5528_875-5527delinsCA
NM_001200001.2:c.875-5528_875-5527delinsCA NP_001186930.1:n.875-5528_875-5527delinsC...