Canonical Allele Identifier: CA340896
Community Standard Title: NM_024408.4(NOTCH2):c.5930-1G>A
Gene: NOTCH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119917763C>T , CM000663.2:g.119917763C>T GRCh38
NC_000001.10:g.120460386C>T , CM000663.1:g.120460386C>T GRCh37
NC_000001.9:g.120261909C>T NCBI36
NG_008163.1:g.156891G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024408.4:c.5930-1G>A MANE Select NP_077719.2:n.5930-1G>A
ENST00000256646.7:c.5930-1G>A MANE Select ENSP00000256646.2:n.5930-1G>A
NM_024408.3:c.5930-1G>A NP_077719.2:n.5930-1G>A
ENST00000256646.6:c.5930-1G>A ENSP00000256646.2:n.5930-1G>A
XM_005270901.2:c.5813-1G>A XP_005270958.1:n.5813-1G>A
XM_011541519.1:c.5918-1G>A XP_011539821.1:n.5918-1G>A
XM_011541520.1:c.5813-1G>A XP_011539822.1:n.5813-1G>A
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