Canonical Allele Identifier: CA507072468

Gene: KMT2B

Linked Data

• dbSNP Id: rs1458190884
• gnomAD v3: 19-35729984-G-A
• gnomAD v4: 19-35729984-G-A
• MyVariant Identifiers: chr19:g.36220885G>A (hg19) ; chr19:g.35729984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35729984G>A , CM000681.2:g.35729984G>A	GRCh38
NC_000019.9:g.36220885G>A , CM000681.1:g.36220885G>A	GRCh37
NC_000019.8:g.40912725G>A	NCBI36
NG_052906.1:g.16966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4869G>A	ENSP00000501283.1:p.Leu1623=
ENST00000674114.2:c.2476G>A	ENSP00000501039.2:n.2476G>A
ENST00000684977.1:c.153G>A	ENSP00000509384.1:p.Leu51=
ENST00000685168.1:c.361G>A
ENST00000689544.1:n.88G>A
ENST00000691421.1:c.156G>A	ENSP00000508674.1:p.Leu52=
ENST00000691855.1:c.4477G>A
ENST00000692961.1:c.4935G>A	ENSP00000509289.1:p.Leu1645=
ENST00000420124.4:c.4935G>A MANE Select	ENSP00000398837.2:p.Leu1645=
ENST00000673918.1:c.4869G>A	ENSP00000501283.1:p.Leu1623=
ENST00000674114.1:c.2257G>A
ENST00000420124.2:c.4935G>A	ENSP00000398837.1:p.Leu1645=
NM_014727.2:c.4935G>A	NP_055542.1:p.Leu1645=
XM_011527561.1:c.4869G>A	XP_011525863.1:p.Leu1623=
XM_011527562.1:c.4935G>A	XP_011525864.1:p.Leu1645=
XM_011527563.1:c.4659G>A	XP_011525865.1:p.Leu1553=
XM_011527561.2:c.4371G>A	XP_011525863.2:p.Leu1457=
XM_011527562.2:c.4935G>A	XP_011525864.1:p.Leu1645=
XM_017027544.1:c.4935G>A	XP_016883033.1:p.Leu1645=
XM_017027545.1:c.4371G>A	XP_016883034.1:p.Leu1457=
XM_017027546.1:c.1899G>A	XP_016883035.1:p.Leu633=
NM_014727.3:c.4935G>A MANE Select	NP_055542.1:p.Leu1645=