Canonical Allele Identifier: CA405431957

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36224723C>A (hg19) ; chr19:g.35733822C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733822C>A , CM000681.2:g.35733822C>A	GRCh38
NC_000019.9:g.36224723C>A , CM000681.1:g.36224723C>A	GRCh37
NC_000019.8:g.40916563C>A	NCBI36
NG_052906.1:g.20804C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.1579C>A
ENST00000673918.2:c.7043C>A	ENSP00000501283.1:p.Pro2348His
ENST00000674114.2:c.4650C>A	ENSP00000501039.2:n.4650C>A
ENST00000684977.1:c.2304C>A	ENSP00000509384.1:n.2304C>A
ENST00000689544.1:n.2350C>A
ENST00000689929.1:c.60C>A
ENST00000691421.1:c.2240C>A	ENSP00000508674.1:p.Pro747His
ENST00000691855.1:c.6651C>A
ENST00000692961.1:c.7033C>A	ENSP00000509289.1:p.Pro2345Thr
ENST00000693175.1:c.60C>A
ENST00000693677.1:c.854C>A	ENSP00000509779.1:p.Pro285His
ENST00000420124.4:c.7109C>A MANE Select	ENSP00000398837.2:p.Pro2370His
ENST00000673918.1:c.7043C>A	ENSP00000501283.1:p.Pro2348His
ENST00000674114.1:c.4431C>A
ENST00000420124.2:c.7109C>A	ENSP00000398837.1:p.Pro2370His
ENST00000592092.1:n.489C>A
NM_014727.2:c.7109C>A	NP_055542.1:p.Pro2370His
XM_011527561.1:c.7043C>A	XP_011525863.1:p.Pro2348His
XM_011527562.1:c.7109C>A	XP_011525864.1:p.Pro2370His
XM_011527563.1:c.6833C>A	XP_011525865.1:p.Pro2278His
XM_011527561.2:c.6545C>A	XP_011525863.2:p.Pro2182His
XM_011527562.2:c.7109C>A	XP_011525864.1:p.Pro2370His
XM_017027544.1:c.7019C>A	XP_016883033.1:p.Pro2340His
XM_017027545.1:c.6545C>A	XP_016883034.1:p.Pro2182His
XM_017027546.1:c.4073C>A	XP_016883035.1:p.Pro1358His
NM_014727.3:c.7109C>A MANE Select	NP_055542.1:p.Pro2370His