×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA341872237
Gene: NOTCH2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.120458074T>C (hg19)
chr1:g.119915451T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.119915451T>C , CM000663.2:g.119915451T>C
GRCh38
NC_000001.10:g.120458074T>C , CM000663.1:g.120458074T>C
GRCh37
NC_000001.9:g.120259597T>C
NCBI36
NG_008163.1:g.159203A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000256646.7:c.7271A>G
MANE Select
ENSP00000256646.2:p.Gln2424Arg
ENST00000256646.6:c.7271A>G
ENSP00000256646.2:p.Gln2424Arg
NM_024408.3:c.7271A>G
NP_077719.2:p.Gln2424Arg
XM_005270901.2:c.7154A>G
XP_005270958.1:p.Gln2385Arg
XM_011541519.1:c.7259A>G
XP_011539821.1:p.Gln2420Arg
XM_011541520.1:c.7154A>G
XP_011539822.1:p.Gln2385Arg
NM_024408.4:c.7271A>G
MANE Select
NP_077719.2:p.Gln2424Arg
Search 100 bp 5'
Search 100 bp 3'