Canonical Allele Identifier: CA886309223
Gene: NOTCH2 HGNC NCBI

Linked Data

dbSNP Id: rs1216446624
MyVariant Identifiers: chr1:g.119975208G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119975208G>A , CM000663.2:g.119975208G>A GRCh38
NC_000001.10:g.120517831G>A , CM000663.1:g.120517831G>A GRCh37
NC_000001.9:g.120319354G>A NCBI36
NG_008163.1:g.99446C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.875-5464C>T MANE Select ENSP00000256646.2:n.875-5464C>T
ENST00000640021.1:c.94+1142C>T ENSP00000492223.1:n.94+1142C>T
ENST00000256646.6:c.875-5464C>T ENSP00000256646.2:n.875-5464C>T
ENST00000479412.2:n.1013-5464C>T
ENST00000579475.7:c.758-5464C>T ENSP00000477065.2:n.758-5464C>T
NM_001200001.1:c.875-5464C>T NP_001186930.1:n.875-5464C>T
NM_024408.3:c.875-5464C>T NP_077719.2:n.875-5464C>T
XM_005270901.2:c.758-5464C>T XP_005270958.1:n.758-5464C>T
XM_011541519.1:c.863-5464C>T XP_011539821.1:n.863-5464C>T
XM_011541520.1:c.758-5464C>T XP_011539822.1:n.758-5464C>T
NM_024408.4:c.875-5464C>T MANE Select NP_077719.2:n.875-5464C>T
NM_001200001.2:c.875-5464C>T NP_001186930.1:n.875-5464C>T