Canonical Allele Identifier: CA341872241
Gene: NOTCH2 HGNC NCBI

Linked Data

dbSNP Id: rs1317475762
MyVariant Identifiers: chr1:g.120458075G>A (hg19) chr1:g.119915452G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915452G>A , CM000663.2:g.119915452G>A GRCh38
NC_000001.10:g.120458075G>A , CM000663.1:g.120458075G>A GRCh37
NC_000001.9:g.120259598G>A NCBI36
NG_008163.1:g.159202C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256646.7:c.7270C>T MANE Select ENSP00000256646.2:p.Gln2424Ter
ENST00000256646.6:c.7270C>T ENSP00000256646.2:p.Gln2424Ter
NM_024408.3:c.7270C>T NP_077719.2:p.Gln2424Ter
XM_005270901.2:c.7153C>T XP_005270958.1:p.Gln2385Ter
XM_011541519.1:c.7258C>T XP_011539821.1:p.Gln2420Ter
XM_011541520.1:c.7153C>T XP_011539822.1:p.Gln2385Ter
NM_024408.4:c.7270C>T MANE Select NP_077719.2:p.Gln2424Ter
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