Canonical Allele Identifier: CA405429543

Gene: KMT2B

Linked Data

• dbSNP Id: rs1261537811
• gnomAD v2: 19-36224066-G-A
• gnomAD v3: 19-35733165-G-A
• gnomAD v4: 19-35733165-G-A
• MyVariant Identifiers: chr19:g.36224066G>A (hg19) ; chr19:g.35733165G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733165G>A , CM000681.2:g.35733165G>A	GRCh38
NC_000019.9:g.36224066G>A , CM000681.1:g.36224066G>A	GRCh37
NC_000019.8:g.40915906G>A	NCBI36
NG_052906.1:g.20147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.922G>A
ENST00000673918.2:c.6550G>A	ENSP00000501283.1:p.Gly2184Arg
ENST00000674114.2:c.4157G>A	ENSP00000501039.2:n.4157G>A
ENST00000684977.1:c.1834G>A	ENSP00000509384.1:p.Gly612Arg
ENST00000689544.1:n.1769G>A
ENST00000691421.1:c.1837G>A	ENSP00000508674.1:p.Gly613Arg
ENST00000691855.1:c.6158G>A
ENST00000692961.1:c.6616G>A	ENSP00000509289.1:p.Gly2206Arg
ENST00000693677.1:c.705-432G>A	ENSP00000509779.1:n.705-432G>A
ENST00000420124.4:c.6616G>A MANE Select	ENSP00000398837.2:p.Gly2206Arg
ENST00000673918.1:c.6550G>A	ENSP00000501283.1:p.Gly2184Arg
ENST00000674114.1:c.3938G>A
ENST00000420124.2:c.6616G>A	ENSP00000398837.1:p.Gly2206Arg
NM_014727.2:c.6616G>A	NP_055542.1:p.Gly2206Arg
XM_011527561.1:c.6550G>A	XP_011525863.1:p.Gly2184Arg
XM_011527562.1:c.6616G>A	XP_011525864.1:p.Gly2206Arg
XM_011527563.1:c.6340G>A	XP_011525865.1:p.Gly2114Arg
XM_011527561.2:c.6052G>A	XP_011525863.2:p.Gly2018Arg
XM_011527562.2:c.6616G>A	XP_011525864.1:p.Gly2206Arg
XM_017027544.1:c.6616G>A	XP_016883033.1:p.Gly2206Arg
XM_017027545.1:c.6052G>A	XP_016883034.1:p.Gly2018Arg
XM_017027546.1:c.3580G>A	XP_016883035.1:p.Gly1194Arg
NM_014727.3:c.6616G>A MANE Select	NP_055542.1:p.Gly2206Arg