Canonical Allele Identifier: CA405429538

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35733163-C-A
• MyVariant Identifiers: chr19:g.36224064C>A (hg19) ; chr19:g.35733163C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733163C>A , CM000681.2:g.35733163C>A	GRCh38
NC_000019.9:g.36224064C>A , CM000681.1:g.36224064C>A	GRCh37
NC_000019.8:g.40915904C>A	NCBI36
NG_052906.1:g.20145C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.920C>A
ENST00000673918.2:c.6548C>A	ENSP00000501283.1:p.Ala2183Asp
ENST00000674114.2:c.4155C>A	ENSP00000501039.2:n.4155C>A
ENST00000684977.1:c.1832C>A	ENSP00000509384.1:p.Ala611Asp
ENST00000689544.1:n.1767C>A
ENST00000691421.1:c.1835C>A	ENSP00000508674.1:p.Ala612Asp
ENST00000691855.1:c.6156C>A
ENST00000692961.1:c.6614C>A	ENSP00000509289.1:p.Ala2205Asp
ENST00000693677.1:c.705-434C>A	ENSP00000509779.1:n.705-434C>A
ENST00000420124.4:c.6614C>A MANE Select	ENSP00000398837.2:p.Ala2205Asp
ENST00000673918.1:c.6548C>A	ENSP00000501283.1:p.Ala2183Asp
ENST00000674114.1:c.3936C>A
ENST00000420124.2:c.6614C>A	ENSP00000398837.1:p.Ala2205Asp
NM_014727.2:c.6614C>A	NP_055542.1:p.Ala2205Asp
XM_011527561.1:c.6548C>A	XP_011525863.1:p.Ala2183Asp
XM_011527562.1:c.6614C>A	XP_011525864.1:p.Ala2205Asp
XM_011527563.1:c.6338C>A	XP_011525865.1:p.Ala2113Asp
XM_011527561.2:c.6050C>A	XP_011525863.2:p.Ala2017Asp
XM_011527562.2:c.6614C>A	XP_011525864.1:p.Ala2205Asp
XM_017027544.1:c.6614C>A	XP_016883033.1:p.Ala2205Asp
XM_017027545.1:c.6050C>A	XP_016883034.1:p.Ala2017Asp
XM_017027546.1:c.3578C>A	XP_016883035.1:p.Ala1193Asp
NM_014727.3:c.6614C>A MANE Select	NP_055542.1:p.Ala2205Asp