Canonical Allele Identifier: CA507308912

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732975-G-A
• MyVariant Identifiers: chr19:g.36223876G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732975G>A , CM000681.2:g.35732975G>A	GRCh38
NC_000019.9:g.36223876G>A , CM000681.1:g.36223876G>A	GRCh37
NC_000019.8:g.40915716G>A	NCBI36
NG_052906.1:g.19957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.732G>A
ENST00000673918.2:c.6360G>A	ENSP00000501283.1:p.Leu2120=
ENST00000674114.2:c.3967G>A	ENSP00000501039.2:n.3967G>A
ENST00000684977.1:c.1644G>A	ENSP00000509384.1:p.Leu548=
ENST00000689544.1:n.1579G>A
ENST00000691421.1:c.1647G>A	ENSP00000508674.1:p.Leu549=
ENST00000691855.1:c.5968G>A
ENST00000692961.1:c.6426G>A	ENSP00000509289.1:p.Leu2142=
ENST00000693677.1:c.705-622G>A	ENSP00000509779.1:n.705-622G>A
ENST00000420124.4:c.6426G>A MANE Select	ENSP00000398837.2:p.Leu2142=
ENST00000673918.1:c.6360G>A	ENSP00000501283.1:p.Leu2120=
ENST00000674114.1:c.3748G>A
ENST00000420124.2:c.6426G>A	ENSP00000398837.1:p.Leu2142=
NM_014727.2:c.6426G>A	NP_055542.1:p.Leu2142=
XM_011527561.1:c.6360G>A	XP_011525863.1:p.Leu2120=
XM_011527562.1:c.6426G>A	XP_011525864.1:p.Leu2142=
XM_011527563.1:c.6150G>A	XP_011525865.1:p.Leu2050=
XM_011527561.2:c.5862G>A	XP_011525863.2:p.Leu1954=
XM_011527562.2:c.6426G>A	XP_011525864.1:p.Leu2142=
XM_017027544.1:c.6426G>A	XP_016883033.1:p.Leu2142=
XM_017027545.1:c.5862G>A	XP_016883034.1:p.Leu1954=
XM_017027546.1:c.3390G>A	XP_016883035.1:p.Leu1130=
NM_014727.3:c.6426G>A MANE Select	NP_055542.1:p.Leu2142=