Canonical Allele Identifier: CA30309332

Gene: NOTCH2

Linked Data

• dbSNP Id: rs587661550
• gnomAD v2: 1-120517998-T-C
• gnomAD v3: 1-119975375-T-C
• gnomAD v4: 1-119975375-T-C
• MyVariant Identifiers: chr1:g.120517998T>C (hg19) ; chr1:g.119975375T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119975375T>C , CM000663.2:g.119975375T>C	GRCh38
NC_000001.10:g.120517998T>C , CM000663.1:g.120517998T>C	GRCh37
NC_000001.9:g.120319521T>C	NCBI36
NG_008163.1:g.99279A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000256646.7:c.875-5631A>G MANE Select	ENSP00000256646.2:n.875-5631A>G
ENST00000640021.1:c.94+975A>G	ENSP00000492223.1:n.94+975A>G
ENST00000256646.6:c.875-5631A>G	ENSP00000256646.2:n.875-5631A>G
ENST00000479412.2:n.1013-5631A>G
ENST00000579475.7:c.758-5631A>G	ENSP00000477065.2:n.758-5631A>G
NM_001200001.1:c.875-5631A>G	NP_001186930.1:n.875-5631A>G
NM_024408.3:c.875-5631A>G	NP_077719.2:n.875-5631A>G
XM_005270901.2:c.758-5631A>G	XP_005270958.1:n.758-5631A>G
XM_011541519.1:c.863-5631A>G	XP_011539821.1:n.863-5631A>G
XM_011541520.1:c.758-5631A>G	XP_011539822.1:n.758-5631A>G
NM_024408.4:c.875-5631A>G MANE Select	NP_077719.2:n.875-5631A>G
NM_001200001.2:c.875-5631A>G	NP_001186930.1:n.875-5631A>G