Canonical Allele Identifier: CA1039518
Community Standard Title: NM_024408.4(NOTCH2):c.6027+10G>T
Gene: NOTCH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119917655C>A , CM000663.2:g.119917655C>A GRCh38
NC_000001.10:g.120460278C>A , CM000663.1:g.120460278C>A GRCh37
NC_000001.9:g.120261801C>A NCBI36
NG_008163.1:g.156999G>T

Transcript Alleles

HGVS Amino-acid Change
NM_024408.4:c.6027+10G>T MANE Select NP_077719.2:n.6027+10G>T
ENST00000256646.7:c.6027+10G>T MANE Select ENSP00000256646.2:n.6027+10G>T
NM_024408.3:c.6027+10G>T NP_077719.2:n.6027+10G>T
ENST00000256646.6:c.6027+10G>T ENSP00000256646.2:n.6027+10G>T
XM_005270901.2:c.5910+10G>T XP_005270958.1:n.5910+10G>T
XM_011541519.1:c.6015+10G>T XP_011539821.1:n.6015+10G>T
XM_011541520.1:c.5910+10G>T XP_011539822.1:n.5910+10G>T
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