Canonical Allele Identifier: CA242576

Gene: NOTCH2

Linked Data

• ClinVar Variation Id: 195906
• ClinVar RCV Id: RCV000176589 ; RCV002054080
• dbSNP Id: rs753043164
• ExAC: 1:120468398 T / C
• gnomAD v2: 1-120468398-T-C
• gnomAD v3: 1-119925775-T-C
• gnomAD v4: 1-119925775-T-C
• MyVariant Identifiers: chr1:g.120468398T>C (hg19) ; chr1:g.119925775T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119925775T>C , CM000663.2:g.119925775T>C	GRCh38
NC_000001.10:g.120468398T>C , CM000663.1:g.120468398T>C	GRCh37
NC_000001.9:g.120269921T>C	NCBI36
NG_008163.1:g.148879A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256646.7:c.4041A>G MANE Select	ENSP00000256646.2:p.Gly1347=
ENST00000256646.6:c.4041A>G	ENSP00000256646.2:p.Gly1347=
NM_024408.3:c.4041A>G	NP_077719.2:p.Gly1347=
XM_005270901.2:c.3924A>G	XP_005270958.1:p.Gly1308=
XM_011541519.1:c.4029A>G	XP_011539821.1:p.Gly1343=
XM_011541520.1:c.3924A>G	XP_011539822.1:p.Gly1308=
NM_024408.4:c.4041A>G MANE Select	NP_077719.2:p.Gly1347=