Canonical Allele Identifier: CA70767158

Gene: KAT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.20122989G>A , CM000665.2:g.20122989G>A	GRCh38
NC_000003.11:g.20164481G>A , CM000665.1:g.20164481G>A	GRCh37
NC_000003.10:g.20139485G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_003884.5:c.1413+185G>A MANE Select	NP_003875.3:n.1413+185G>A
ENST00000263754.5:c.1413+185G>A MANE Select	ENSP00000263754.4:n.1413+185G>A
NM_003884.4:c.1413+185G>A	NP_003875.3:n.1413+185G>A
ENST00000263754.4:c.1413+185G>A	ENSP00000263754.4:n.1413+185G>A
XM_005265528.3:c.1413+185G>A	XP_005265585.1:n.1413+185G>A
XM_005265528.4:c.1413+185G>A	XP_005265585.1:n.1413+185G>A
XM_011534206.1:c.1122+185G>A	XP_011532508.1:n.1122+185G>A
XM_017007423.1:c.1122+185G>A	XP_016862912.1:n.1122+185G>A
XM_017007424.1:c.1122+185G>A	XP_016862913.1:n.1122+185G>A
XR_001740351.1:n.1484+185G>A
XR_245162.3:n.1673+16G>A
XR_245162.4:n.1653+16G>A