Canonical Allele Identifier: CA405418769

Gene: KMT2B

Linked Data

• dbSNP Id: rs1279364009
• gnomAD v2: 19-36220898-A-G
• MyVariant Identifiers: chr19:g.36220898A>G (hg19) ; chr19:g.35729997A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35729997A>G , CM000681.2:g.35729997A>G	GRCh38
NC_000019.9:g.36220898A>G , CM000681.1:g.36220898A>G	GRCh37
NC_000019.8:g.40912738A>G	NCBI36
NG_052906.1:g.16979A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4882A>G	ENSP00000501283.1:p.Thr1628Ala
ENST00000674114.2:c.2489A>G	ENSP00000501039.2:n.2489A>G
ENST00000684977.1:c.166A>G	ENSP00000509384.1:p.Thr56Ala
ENST00000685168.1:c.374A>G
ENST00000689544.1:n.101A>G
ENST00000691421.1:c.169A>G	ENSP00000508674.1:p.Thr57Ala
ENST00000691855.1:c.4490A>G
ENST00000692961.1:c.4948A>G	ENSP00000509289.1:p.Thr1650Ala
ENST00000420124.4:c.4948A>G MANE Select	ENSP00000398837.2:p.Thr1650Ala
ENST00000673918.1:c.4882A>G	ENSP00000501283.1:p.Thr1628Ala
ENST00000674114.1:c.2270A>G
ENST00000420124.2:c.4948A>G	ENSP00000398837.1:p.Thr1650Ala
NM_014727.2:c.4948A>G	NP_055542.1:p.Thr1650Ala
XM_011527561.1:c.4882A>G	XP_011525863.1:p.Thr1628Ala
XM_011527562.1:c.4948A>G	XP_011525864.1:p.Thr1650Ala
XM_011527563.1:c.4672A>G	XP_011525865.1:p.Thr1558Ala
XM_011527561.2:c.4384A>G	XP_011525863.2:p.Thr1462Ala
XM_011527562.2:c.4948A>G	XP_011525864.1:p.Thr1650Ala
XM_017027544.1:c.4948A>G	XP_016883033.1:p.Thr1650Ala
XM_017027545.1:c.4384A>G	XP_016883034.1:p.Thr1462Ala
XM_017027546.1:c.1912A>G	XP_016883035.1:p.Thr638Ala
NM_014727.3:c.4948A>G MANE Select	NP_055542.1:p.Thr1650Ala