Canonical Allele Identifier: CA507308668

Gene: KMT2B

Linked Data

• dbSNP Id: rs1268075975
• gnomAD v2: 19-36223807-G-A
• gnomAD v3: 19-35732906-G-A
• gnomAD v4: 19-35732906-G-A
• MyVariant Identifiers: chr19:g.36223807G>A (hg19) ; chr19:g.35732906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732906G>A , CM000681.2:g.35732906G>A	GRCh38
NC_000019.9:g.36223807G>A , CM000681.1:g.36223807G>A	GRCh37
NC_000019.8:g.40915647G>A	NCBI36
NG_052906.1:g.19888G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.663G>A
ENST00000673918.2:c.6291G>A	ENSP00000501283.1:p.Lys2097=
ENST00000674114.2:c.3898G>A	ENSP00000501039.2:n.3898G>A
ENST00000684977.1:c.1575G>A	ENSP00000509384.1:p.Lys525=
ENST00000689544.1:n.1510G>A
ENST00000691421.1:c.1578G>A	ENSP00000508674.1:p.Lys526=
ENST00000691855.1:c.5899G>A
ENST00000692961.1:c.6357G>A	ENSP00000509289.1:p.Lys2119=
ENST00000693677.1:c.704+577G>A	ENSP00000509779.1:n.704+577G>A
ENST00000420124.4:c.6357G>A MANE Select	ENSP00000398837.2:p.Lys2119=
ENST00000673918.1:c.6291G>A	ENSP00000501283.1:p.Lys2097=
ENST00000674114.1:c.3679G>A
ENST00000420124.2:c.6357G>A	ENSP00000398837.1:p.Lys2119=
NM_014727.2:c.6357G>A	NP_055542.1:p.Lys2119=
XM_011527561.1:c.6291G>A	XP_011525863.1:p.Lys2097=
XM_011527562.1:c.6357G>A	XP_011525864.1:p.Lys2119=
XM_011527563.1:c.6081G>A	XP_011525865.1:p.Lys2027=
XM_011527561.2:c.5793G>A	XP_011525863.2:p.Lys1931=
XM_011527562.2:c.6357G>A	XP_011525864.1:p.Lys2119=
XM_017027544.1:c.6357G>A	XP_016883033.1:p.Lys2119=
XM_017027545.1:c.5793G>A	XP_016883034.1:p.Lys1931=
XM_017027546.1:c.3321G>A	XP_016883035.1:p.Lys1107=
NM_014727.3:c.6357G>A MANE Select	NP_055542.1:p.Lys2119=