Canonical Allele Identifier: CA405428440

Gene: KMT2B

Linked Data

• dbSNP Id: rs759383544
• gnomAD v2: 19-36223877-G-A
• MyVariant Identifiers: chr19:g.36223877G>A (hg19) ; chr19:g.35732976G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732976G>A , CM000681.2:g.35732976G>A	GRCh38
NC_000019.9:g.36223877G>A , CM000681.1:g.36223877G>A	GRCh37
NC_000019.8:g.40915717G>A	NCBI36
NG_052906.1:g.19958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.733G>A
ENST00000673918.2:c.6361G>A	ENSP00000501283.1:p.Ala2121Thr
ENST00000674114.2:c.3968G>A	ENSP00000501039.2:n.3968G>A
ENST00000684977.1:c.1645G>A	ENSP00000509384.1:p.Ala549Thr
ENST00000689544.1:n.1580G>A
ENST00000691421.1:c.1648G>A	ENSP00000508674.1:p.Ala550Thr
ENST00000691855.1:c.5969G>A
ENST00000692961.1:c.6427G>A	ENSP00000509289.1:p.Ala2143Thr
ENST00000693677.1:c.705-621G>A	ENSP00000509779.1:n.705-621G>A
ENST00000420124.4:c.6427G>A MANE Select	ENSP00000398837.2:p.Ala2143Thr
ENST00000673918.1:c.6361G>A	ENSP00000501283.1:p.Ala2121Thr
ENST00000674114.1:c.3749G>A
ENST00000420124.2:c.6427G>A	ENSP00000398837.1:p.Ala2143Thr
NM_014727.2:c.6427G>A	NP_055542.1:p.Ala2143Thr
XM_011527561.1:c.6361G>A	XP_011525863.1:p.Ala2121Thr
XM_011527562.1:c.6427G>A	XP_011525864.1:p.Ala2143Thr
XM_011527563.1:c.6151G>A	XP_011525865.1:p.Ala2051Thr
XM_011527561.2:c.5863G>A	XP_011525863.2:p.Ala1955Thr
XM_011527562.2:c.6427G>A	XP_011525864.1:p.Ala2143Thr
XM_017027544.1:c.6427G>A	XP_016883033.1:p.Ala2143Thr
XM_017027545.1:c.5863G>A	XP_016883034.1:p.Ala1955Thr
XM_017027546.1:c.3391G>A	XP_016883035.1:p.Ala1131Thr
NM_014727.3:c.6427G>A MANE Select	NP_055542.1:p.Ala2143Thr