Canonical Allele Identifier: CA405427517

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732832-G-C
• MyVariant Identifiers: chr19:g.36223733G>C (hg19) ; chr19:g.35732832G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732832G>C , CM000681.2:g.35732832G>C	GRCh38
NC_000019.9:g.36223733G>C , CM000681.1:g.36223733G>C	GRCh37
NC_000019.8:g.40915573G>C	NCBI36
NG_052906.1:g.19814G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.589G>C
ENST00000673918.2:c.6217G>C	ENSP00000501283.1:p.Val2073Leu
ENST00000674114.2:c.3824G>C	ENSP00000501039.2:n.3824G>C
ENST00000684977.1:c.1501G>C	ENSP00000509384.1:p.Val501Leu
ENST00000689544.1:n.1436G>C
ENST00000691421.1:c.1504G>C	ENSP00000508674.1:p.Val502Leu
ENST00000691855.1:c.5825G>C
ENST00000692961.1:c.6283G>C	ENSP00000509289.1:p.Val2095Leu
ENST00000693677.1:c.704+503G>C	ENSP00000509779.1:n.704+503G>C
ENST00000420124.4:c.6283G>C MANE Select	ENSP00000398837.2:p.Val2095Leu
ENST00000673918.1:c.6217G>C	ENSP00000501283.1:p.Val2073Leu
ENST00000674114.1:c.3605G>C
ENST00000420124.2:c.6283G>C	ENSP00000398837.1:p.Val2095Leu
NM_014727.2:c.6283G>C	NP_055542.1:p.Val2095Leu
XM_011527561.1:c.6217G>C	XP_011525863.1:p.Val2073Leu
XM_011527562.1:c.6283G>C	XP_011525864.1:p.Val2095Leu
XM_011527563.1:c.6007G>C	XP_011525865.1:p.Val2003Leu
XM_011527561.2:c.5719G>C	XP_011525863.2:p.Val1907Leu
XM_011527562.2:c.6283G>C	XP_011525864.1:p.Val2095Leu
XM_017027544.1:c.6283G>C	XP_016883033.1:p.Val2095Leu
XM_017027545.1:c.5719G>C	XP_016883034.1:p.Val1907Leu
XM_017027546.1:c.3247G>C	XP_016883035.1:p.Val1083Leu
NM_014727.3:c.6283G>C MANE Select	NP_055542.1:p.Val2095Leu