Canonical Allele Identifier: CA2581861968
Community Standard Title: NM_003884.5(KAT2B):c.304-5279C>G
Gene: KAT2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.20067054C>G , CM000665.2:g.20067054C>G GRCh38
NC_000003.11:g.20108546C>G , CM000665.1:g.20108546C>G GRCh37
NC_000003.10:g.20083550C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_003884.5:c.304-5279C>G MANE Select NP_003875.3:n.304-5279C>G
ENST00000263754.5:c.304-5279C>G MANE Select ENSP00000263754.4:n.304-5279C>G
NM_003884.4:c.304-5279C>G NP_003875.3:n.304-5279C>G
ENST00000263754.4:c.304-5279C>G ENSP00000263754.4:n.304-5279C>G
ENST00000426228.1:n.84-5279C>G
XM_005265528.3:c.304-5279C>G XP_005265585.1:n.304-5279C>G
XM_005265528.4:c.304-5279C>G XP_005265585.1:n.304-5279C>G
XM_011534206.1:c.-192-4310C>G XP_011532508.1:n.-192-4310C>G
XR_001740351.1:n.375-5279C>G
XR_245162.3:n.395-5279C>G
XR_245162.4:n.375-5279C>G