Canonical Allele Identifier: CA1040523
Gene: NOTCH2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.119966368G>A
GRCh37 chr1:g.120508991G>A
gnomAD v2:
1:120508991 G / A
gnomAD v3:
1:119966368 G / A
gnomAD v4:
chr1-119966368-G-A
Joint Max Group AF 0.0009498 (NFE)
Genomes Max Group AF 0.00080823 (NFE)
Exomes Max Group AF 0.00094761 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119966368G>A , CM000663.2:g.119966368G>A GRCh38
NC_000001.10:g.120508991G>A , CM000663.1:g.120508991G>A GRCh37
NC_000001.9:g.120310514G>A NCBI36
NG_008163.1:g.108286C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.1567+8C>T MANE Select ENSP00000256646.2:n.1567+8C>T
ENST00000640021.1:c.787+8C>T ENSP00000492223.1:n.787+8C>T
ENST00000256646.6:c.1567+8C>T ENSP00000256646.2:n.1567+8C>T
ENST00000479412.2:n.1705+8C>T
ENST00000579475.7:c.1450+8C>T ENSP00000477065.2:n.1450+8C>T
NM_001200001.1:c.1567+8C>T NP_001186930.1:n.1567+8C>T
NM_024408.3:c.1567+8C>T NP_077719.2:n.1567+8C>T
XM_005270901.2:c.1450+8C>T XP_005270958.1:n.1450+8C>T
XM_011541519.1:c.1555+8C>T XP_011539821.1:n.1555+8C>T
XM_011541520.1:c.1450+8C>T XP_011539822.1:n.1450+8C>T
NM_024408.4:c.1567+8C>T MANE Select NP_077719.2:n.1567+8C>T
NM_001200001.2:c.1567+8C>T NP_001186930.1:n.1567+8C>T
Search 100 bp 5'
Search 100 bp 3'