Canonical Allele Identifier: CA341872995
Gene: NOTCH2 HGNC NCBI

Linked Data

COSMIC: COSM876755
MyVariant Identifiers: chr1:g.120458182G>C (hg19) chr1:g.119915559G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915559G>C , CM000663.2:g.119915559G>C GRCh38
NC_000001.10:g.120458182G>C , CM000663.1:g.120458182G>C GRCh37
NC_000001.9:g.120259705G>C NCBI36
NG_008163.1:g.159095C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.7163C>G MANE Select ENSP00000256646.2:p.Ser2388Ter
ENST00000256646.6:c.7163C>G ENSP00000256646.2:p.Ser2388Ter
NM_024408.3:c.7163C>G NP_077719.2:p.Ser2388Ter
XM_005270901.2:c.7046C>G XP_005270958.1:p.Ser2349Ter
XM_011541519.1:c.7151C>G XP_011539821.1:p.Ser2384Ter
XM_011541520.1:c.7046C>G XP_011539822.1:p.Ser2349Ter
NM_024408.4:c.7163C>G MANE Select NP_077719.2:p.Ser2388Ter
Search 100 bp 5'
Search 100 bp 3'