Canonical Allele Identifier: CA405424710

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732493-G-C
• MyVariant Identifiers: chr19:g.36223394G>C (hg19) ; chr19:g.35732493G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732493G>C , CM000681.2:g.35732493G>C	GRCh38
NC_000019.9:g.36223394G>C , CM000681.1:g.36223394G>C	GRCh37
NC_000019.8:g.40915234G>C	NCBI36
NG_052906.1:g.19475G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.250G>C
ENST00000673918.2:c.5878G>C	ENSP00000501283.1:p.Val1960Leu
ENST00000674114.2:c.3485G>C	ENSP00000501039.2:n.3485G>C
ENST00000684977.1:c.1162G>C	ENSP00000509384.1:p.Val388Leu
ENST00000689544.1:n.1097G>C
ENST00000691421.1:c.1165G>C	ENSP00000508674.1:p.Val389Leu
ENST00000691855.1:c.5486G>C
ENST00000692961.1:c.5944G>C	ENSP00000509289.1:p.Val1982Leu
ENST00000693677.1:c.704+164G>C	ENSP00000509779.1:n.704+164G>C
ENST00000420124.4:c.5944G>C MANE Select	ENSP00000398837.2:p.Val1982Leu
ENST00000673918.1:c.5878G>C	ENSP00000501283.1:p.Val1960Leu
ENST00000674114.1:c.3266G>C
ENST00000420124.2:c.5944G>C	ENSP00000398837.1:p.Val1982Leu
NM_014727.2:c.5944G>C	NP_055542.1:p.Val1982Leu
XM_011527561.1:c.5878G>C	XP_011525863.1:p.Val1960Leu
XM_011527562.1:c.5944G>C	XP_011525864.1:p.Val1982Leu
XM_011527563.1:c.5668G>C	XP_011525865.1:p.Val1890Leu
XM_011527561.2:c.5380G>C	XP_011525863.2:p.Val1794Leu
XM_011527562.2:c.5944G>C	XP_011525864.1:p.Val1982Leu
XM_017027544.1:c.5944G>C	XP_016883033.1:p.Val1982Leu
XM_017027545.1:c.5380G>C	XP_016883034.1:p.Val1794Leu
XM_017027546.1:c.2908G>C	XP_016883035.1:p.Val970Leu
NM_014727.3:c.5944G>C MANE Select	NP_055542.1:p.Val1982Leu