Canonical Allele Identifier: CA525747155

Gene: NOTCH2

Linked Data

• dbSNP Id: rs1437916079
• gnomAD v2: 1-120517875-C-G
• MyVariant Identifiers: chr1:g.120517875C>G (hg19) ; chr1:g.119975252C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119975252C>G , CM000663.2:g.119975252C>G	GRCh38
NC_000001.10:g.120517875C>G , CM000663.1:g.120517875C>G	GRCh37
NC_000001.9:g.120319398C>G	NCBI36
NG_008163.1:g.99402G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000256646.7:c.875-5508G>C MANE Select	ENSP00000256646.2:n.875-5508G>C
ENST00000640021.1:c.94+1098G>C	ENSP00000492223.1:n.94+1098G>C
ENST00000256646.6:c.875-5508G>C	ENSP00000256646.2:n.875-5508G>C
ENST00000479412.2:n.1013-5508G>C
ENST00000579475.7:c.758-5508G>C	ENSP00000477065.2:n.758-5508G>C
NM_001200001.1:c.875-5508G>C	NP_001186930.1:n.875-5508G>C
NM_024408.3:c.875-5508G>C	NP_077719.2:n.875-5508G>C
XM_005270901.2:c.758-5508G>C	XP_005270958.1:n.758-5508G>C
XM_011541519.1:c.863-5508G>C	XP_011539821.1:n.863-5508G>C
XM_011541520.1:c.758-5508G>C	XP_011539822.1:n.758-5508G>C
NM_024408.4:c.875-5508G>C MANE Select	NP_077719.2:n.875-5508G>C
NM_001200001.2:c.875-5508G>C	NP_001186930.1:n.875-5508G>C