Canonical Allele Identifier: CA507308647

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223802T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732901T>C , CM000681.2:g.35732901T>C	GRCh38
NC_000019.9:g.36223802T>C , CM000681.1:g.36223802T>C	GRCh37
NC_000019.8:g.40915642T>C	NCBI36
NG_052906.1:g.19883T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.658T>C
ENST00000673918.2:c.6286T>C	ENSP00000501283.1:p.Leu2096=
ENST00000674114.2:c.3893T>C	ENSP00000501039.2:n.3893T>C
ENST00000684977.1:c.1570T>C	ENSP00000509384.1:p.Leu524=
ENST00000689544.1:n.1505T>C
ENST00000691421.1:c.1573T>C	ENSP00000508674.1:p.Leu525=
ENST00000691855.1:c.5894T>C
ENST00000692961.1:c.6352T>C	ENSP00000509289.1:p.Leu2118=
ENST00000693677.1:c.704+572T>C	ENSP00000509779.1:n.704+572T>C
ENST00000420124.4:c.6352T>C MANE Select	ENSP00000398837.2:p.Leu2118=
ENST00000673918.1:c.6286T>C	ENSP00000501283.1:p.Leu2096=
ENST00000674114.1:c.3674T>C
ENST00000420124.2:c.6352T>C	ENSP00000398837.1:p.Leu2118=
NM_014727.2:c.6352T>C	NP_055542.1:p.Leu2118=
XM_011527561.1:c.6286T>C	XP_011525863.1:p.Leu2096=
XM_011527562.1:c.6352T>C	XP_011525864.1:p.Leu2118=
XM_011527563.1:c.6076T>C	XP_011525865.1:p.Leu2026=
XM_011527561.2:c.5788T>C	XP_011525863.2:p.Leu1930=
XM_011527562.2:c.6352T>C	XP_011525864.1:p.Leu2118=
XM_017027544.1:c.6352T>C	XP_016883033.1:p.Leu2118=
XM_017027545.1:c.5788T>C	XP_016883034.1:p.Leu1930=
XM_017027546.1:c.3316T>C	XP_016883035.1:p.Leu1106=
NM_014727.3:c.6352T>C MANE Select	NP_055542.1:p.Leu2118=