Canonical Allele Identifier: CA30309252

Gene: NOTCH2

Linked Data

• dbSNP Id: rs993799998
• gnomAD v3: 1-119975241-G-A
• gnomAD v4: 1-119975241-G-A
• MyVariant Identifiers: chr1:g.119975241G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119975241G>A , CM000663.2:g.119975241G>A	GRCh38
NC_000001.10:g.120517864G>A , CM000663.1:g.120517864G>A	GRCh37
NC_000001.9:g.120319387G>A	NCBI36
NG_008163.1:g.99413C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000256646.7:c.875-5497C>T MANE Select	ENSP00000256646.2:n.875-5497C>T
ENST00000640021.1:c.94+1109C>T	ENSP00000492223.1:n.94+1109C>T
ENST00000256646.6:c.875-5497C>T	ENSP00000256646.2:n.875-5497C>T
ENST00000479412.2:n.1013-5497C>T
ENST00000579475.7:c.758-5497C>T	ENSP00000477065.2:n.758-5497C>T
NM_001200001.1:c.875-5497C>T	NP_001186930.1:n.875-5497C>T
NM_024408.3:c.875-5497C>T	NP_077719.2:n.875-5497C>T
XM_005270901.2:c.758-5497C>T	XP_005270958.1:n.758-5497C>T
XM_011541519.1:c.863-5497C>T	XP_011539821.1:n.863-5497C>T
XM_011541520.1:c.758-5497C>T	XP_011539822.1:n.758-5497C>T
NM_024408.4:c.875-5497C>T MANE Select	NP_077719.2:n.875-5497C>T
NM_001200001.2:c.875-5497C>T	NP_001186930.1:n.875-5497C>T