Canonical Allele Identifier: CA9385264

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2746847
• ClinVar RCV Id: RCV003563254
• dbSNP Id: rs778813666
• ExAC: 19:36220903 G / A
• gnomAD v2: 19-36220903-G-A
• gnomAD v3: 19-35730002-G-A
• gnomAD v4: 19-35730002-G-A
• MyVariant Identifiers: chr19:g.36220903G>A (hg19) ; chr19:g.35730002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730002G>A , CM000681.2:g.35730002G>A	GRCh38
NC_000019.9:g.36220903G>A , CM000681.1:g.36220903G>A	GRCh37
NC_000019.8:g.40912743G>A	NCBI36
NG_052906.1:g.16984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4887G>A	ENSP00000501283.1:p.Val1629=
ENST00000674114.2:c.2494G>A	ENSP00000501039.2:n.2494G>A
ENST00000684977.1:c.171G>A	ENSP00000509384.1:p.Val57=
ENST00000685168.1:c.379G>A
ENST00000689544.1:n.106G>A
ENST00000691421.1:c.174G>A	ENSP00000508674.1:p.Val58=
ENST00000691855.1:c.4495G>A
ENST00000692961.1:c.4953G>A	ENSP00000509289.1:p.Val1651=
ENST00000420124.4:c.4953G>A MANE Select	ENSP00000398837.2:p.Val1651=
ENST00000673918.1:c.4887G>A	ENSP00000501283.1:p.Val1629=
ENST00000674114.1:c.2275G>A
ENST00000420124.2:c.4953G>A	ENSP00000398837.1:p.Val1651=
NM_014727.2:c.4953G>A	NP_055542.1:p.Val1651=
XM_011527561.1:c.4887G>A	XP_011525863.1:p.Val1629=
XM_011527562.1:c.4953G>A	XP_011525864.1:p.Val1651=
XM_011527563.1:c.4677G>A	XP_011525865.1:p.Val1559=
XM_011527561.2:c.4389G>A	XP_011525863.2:p.Val1463=
XM_011527562.2:c.4953G>A	XP_011525864.1:p.Val1651=
XM_017027544.1:c.4953G>A	XP_016883033.1:p.Val1651=
XM_017027545.1:c.4389G>A	XP_016883034.1:p.Val1463=
XM_017027546.1:c.1917G>A	XP_016883035.1:p.Val639=
NM_014727.3:c.4953G>A MANE Select	NP_055542.1:p.Val1651=