Canonical Allele Identifier: CA9385280

Gene: KMT2B

Linked Data

• dbSNP Id: rs573139143
• ExAC: 19:36221031 G / A
• gnomAD v2: 19-36221031-G-A
• gnomAD v3: 19-35730130-G-A
• gnomAD v4: 19-35730130-G-A
• MyVariant Identifiers: chr19:g.36221031G>A (hg19) ; chr19:g.35730130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730130G>A , CM000681.2:g.35730130G>A	GRCh38
NC_000019.9:g.36221031G>A , CM000681.1:g.36221031G>A	GRCh37
NC_000019.8:g.40912871G>A	NCBI36
NG_052906.1:g.17112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.5010+5G>A	ENSP00000501283.1:n.5010+5G>A
ENST00000674114.2:c.2617+5G>A	ENSP00000501039.2:n.2617+5G>A
ENST00000684977.1:c.294+5G>A	ENSP00000509384.1:n.294+5G>A
ENST00000685168.1:c.502+5G>A
ENST00000689544.1:n.229+5G>A
ENST00000691421.1:c.297+5G>A	ENSP00000508674.1:n.297+5G>A
ENST00000691855.1:c.4618+5G>A
ENST00000692961.1:c.5076+5G>A	ENSP00000509289.1:n.5076+5G>A
ENST00000420124.4:c.5076+5G>A MANE Select	ENSP00000398837.2:n.5076+5G>A
ENST00000673918.1:c.5010+5G>A	ENSP00000501283.1:n.5010+5G>A
ENST00000674114.1:c.2398+5G>A
ENST00000420124.2:c.5076+5G>A	ENSP00000398837.1:n.5076+5G>A
NM_014727.2:c.5076+5G>A	NP_055542.1:n.5076+5G>A
XM_011527561.1:c.5010+5G>A	XP_011525863.1:n.5010+5G>A
XM_011527562.1:c.5076+5G>A	XP_011525864.1:n.5076+5G>A
XM_011527563.1:c.4800+5G>A	XP_011525865.1:n.4800+5G>A
XM_011527561.2:c.4512+5G>A	XP_011525863.2:n.4512+5G>A
XM_011527562.2:c.5076+5G>A	XP_011525864.1:n.5076+5G>A
XM_017027544.1:c.5076+5G>A	XP_016883033.1:n.5076+5G>A
XM_017027545.1:c.4512+5G>A	XP_016883034.1:n.4512+5G>A
XM_017027546.1:c.2040+5G>A	XP_016883035.1:n.2040+5G>A
NM_014727.3:c.5076+5G>A MANE Select	NP_055542.1:n.5076+5G>A