Canonical Allele Identifier: CA507072697

Gene: KMT2B

Linked Data

• dbSNP Id: rs1338663935
• gnomAD v2: 19-36221017-G-A
• MyVariant Identifiers: chr19:g.36221017G>A (hg19) ; chr19:g.35730116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730116G>A , CM000681.2:g.35730116G>A	GRCh38
NC_000019.9:g.36221017G>A , CM000681.1:g.36221017G>A	GRCh37
NC_000019.8:g.40912857G>A	NCBI36
NG_052906.1:g.17098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.5001G>A	ENSP00000501283.1:p.Leu1667=
ENST00000674114.2:c.2608G>A	ENSP00000501039.2:n.2608G>A
ENST00000684977.1:c.285G>A	ENSP00000509384.1:p.Leu95=
ENST00000685168.1:c.493G>A
ENST00000689544.1:n.220G>A
ENST00000691421.1:c.288G>A	ENSP00000508674.1:p.Leu96=
ENST00000691855.1:c.4609G>A
ENST00000692961.1:c.5067G>A	ENSP00000509289.1:p.Leu1689=
ENST00000420124.4:c.5067G>A MANE Select	ENSP00000398837.2:p.Leu1689=
ENST00000673918.1:c.5001G>A	ENSP00000501283.1:p.Leu1667=
ENST00000674114.1:c.2389G>A
ENST00000420124.2:c.5067G>A	ENSP00000398837.1:p.Leu1689=
NM_014727.2:c.5067G>A	NP_055542.1:p.Leu1689=
XM_011527561.1:c.5001G>A	XP_011525863.1:p.Leu1667=
XM_011527562.1:c.5067G>A	XP_011525864.1:p.Leu1689=
XM_011527563.1:c.4791G>A	XP_011525865.1:p.Leu1597=
XM_011527561.2:c.4503G>A	XP_011525863.2:p.Leu1501=
XM_011527562.2:c.5067G>A	XP_011525864.1:p.Leu1689=
XM_017027544.1:c.5067G>A	XP_016883033.1:p.Leu1689=
XM_017027545.1:c.4503G>A	XP_016883034.1:p.Leu1501=
XM_017027546.1:c.2031G>A	XP_016883035.1:p.Leu677=
NM_014727.3:c.5067G>A MANE Select	NP_055542.1:p.Leu1689=