Canonical Allele Identifier: CA405424502

Gene: KMT2B

Linked Data

• dbSNP Id: rs1203473229
• gnomAD v2: 19-36223359-C-G
• gnomAD v4: 19-35732458-C-G
• MyVariant Identifiers: chr19:g.36223359C>G (hg19) ; chr19:g.35732458C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732458C>G , CM000681.2:g.35732458C>G	GRCh38
NC_000019.9:g.36223359C>G , CM000681.1:g.36223359C>G	GRCh37
NC_000019.8:g.40915199C>G	NCBI36
NG_052906.1:g.19440C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.215C>G
ENST00000673918.2:c.5843C>G	ENSP00000501283.1:p.Pro1948Arg
ENST00000674114.2:c.3450C>G	ENSP00000501039.2:n.3450C>G
ENST00000684977.1:c.1127C>G	ENSP00000509384.1:p.Pro376Arg
ENST00000689544.1:n.1062C>G
ENST00000691421.1:c.1130C>G	ENSP00000508674.1:p.Pro377Arg
ENST00000691855.1:c.5451C>G
ENST00000692961.1:c.5909C>G	ENSP00000509289.1:p.Pro1970Arg
ENST00000693677.1:c.704+129C>G	ENSP00000509779.1:n.704+129C>G
ENST00000420124.4:c.5909C>G MANE Select	ENSP00000398837.2:p.Pro1970Arg
ENST00000673918.1:c.5843C>G	ENSP00000501283.1:p.Pro1948Arg
ENST00000674114.1:c.3231C>G
ENST00000420124.2:c.5909C>G	ENSP00000398837.1:p.Pro1970Arg
NM_014727.2:c.5909C>G	NP_055542.1:p.Pro1970Arg
XM_011527561.1:c.5843C>G	XP_011525863.1:p.Pro1948Arg
XM_011527562.1:c.5909C>G	XP_011525864.1:p.Pro1970Arg
XM_011527563.1:c.5633C>G	XP_011525865.1:p.Pro1878Arg
XM_011527561.2:c.5345C>G	XP_011525863.2:p.Pro1782Arg
XM_011527562.2:c.5909C>G	XP_011525864.1:p.Pro1970Arg
XM_017027544.1:c.5909C>G	XP_016883033.1:p.Pro1970Arg
XM_017027545.1:c.5345C>G	XP_016883034.1:p.Pro1782Arg
XM_017027546.1:c.2873C>G	XP_016883035.1:p.Pro958Arg
NM_014727.3:c.5909C>G MANE Select	NP_055542.1:p.Pro1970Arg