Canonical Allele Identifier: CA507072691

Gene: KMT2B

Linked Data

• dbSNP Id: rs760121520
• gnomAD v3: 19-35730107-T-G
• gnomAD v4: 19-35730107-T-G
• MyVariant Identifiers: chr19:g.36221008T>G (hg19) ; chr19:g.35730107T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730107T>G , CM000681.2:g.35730107T>G	GRCh38
NC_000019.9:g.36221008T>G , CM000681.1:g.36221008T>G	GRCh37
NC_000019.8:g.40912848T>G	NCBI36
NG_052906.1:g.17089T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4992T>G	ENSP00000501283.1:p.Thr1664=
ENST00000674114.2:c.2599T>G	ENSP00000501039.2:n.2599T>G
ENST00000684977.1:c.276T>G	ENSP00000509384.1:p.Thr92=
ENST00000685168.1:c.484T>G
ENST00000689544.1:n.211T>G
ENST00000691421.1:c.279T>G	ENSP00000508674.1:p.Thr93=
ENST00000691855.1:c.4600T>G
ENST00000692961.1:c.5058T>G	ENSP00000509289.1:p.Thr1686=
ENST00000420124.4:c.5058T>G MANE Select	ENSP00000398837.2:p.Thr1686=
ENST00000673918.1:c.4992T>G	ENSP00000501283.1:p.Thr1664=
ENST00000674114.1:c.2380T>G
ENST00000420124.2:c.5058T>G	ENSP00000398837.1:p.Thr1686=
NM_014727.2:c.5058T>G	NP_055542.1:p.Thr1686=
XM_011527561.1:c.4992T>G	XP_011525863.1:p.Thr1664=
XM_011527562.1:c.5058T>G	XP_011525864.1:p.Thr1686=
XM_011527563.1:c.4782T>G	XP_011525865.1:p.Thr1594=
XM_011527561.2:c.4494T>G	XP_011525863.2:p.Thr1498=
XM_011527562.2:c.5058T>G	XP_011525864.1:p.Thr1686=
XM_017027544.1:c.5058T>G	XP_016883033.1:p.Thr1686=
XM_017027545.1:c.4494T>G	XP_016883034.1:p.Thr1498=
XM_017027546.1:c.2022T>G	XP_016883035.1:p.Thr674=
NM_014727.3:c.5058T>G MANE Select	NP_055542.1:p.Thr1686=