Canonical Allele Identifier: CA11580233
Community Standard Title: NM_003884.5(KAT2B):c.2156+87G>A
Gene: KAT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.20148086G>A , CM000665.2:g.20148086G>A GRCh38
NC_000003.11:g.20189578G>A , CM000665.1:g.20189578G>A GRCh37
NC_000003.10:g.20164582G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003884.5:c.2156+87G>A MANE Select NP_003875.3:n.2156+87G>A
ENST00000263754.5:c.2156+87G>A MANE Select ENSP00000263754.4:n.2156+87G>A
NM_003884.4:c.2156+87G>A NP_003875.3:n.2156+87G>A
ENST00000263754.4:c.2156+87G>A ENSP00000263754.4:n.2156+87G>A
XM_005265528.3:c.2156+87G>A XP_005265585.1:n.2156+87G>A
XM_005265528.4:c.2156+87G>A XP_005265585.1:n.2156+87G>A
XM_011534206.1:c.1865+87G>A XP_011532508.1:n.1865+87G>A
XM_017007423.1:c.1865+87G>A XP_016862912.1:n.1865+87G>A
XM_017007424.1:c.1865+87G>A XP_016862913.1:n.1865+87G>A
XR_001740351.1:n.2100+87G>A
XR_245162.4:n.2396+87G>A