Canonical Allele Identifier: CA9385255

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2419340
• ClinVar RCV Id: RCV003112584
• dbSNP Id: rs764374524
• ExAC: 19:36220861 T / C
• gnomAD v2: 19-36220861-T-C
• gnomAD v3: 19-35729960-T-C
• gnomAD v4: 19-35729960-T-C
• MyVariant Identifiers: chr19:g.36220861T>C (hg19) ; chr19:g.35729960T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35729960T>C , CM000681.2:g.35729960T>C	GRCh38
NC_000019.9:g.36220861T>C , CM000681.1:g.36220861T>C	GRCh37
NC_000019.8:g.40912701T>C	NCBI36
NG_052906.1:g.16942T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000673918.2:c.4852-7T>C	ENSP00000501283.1:n.4852-7T>C
ENST00000674114.2:c.2459-7T>C	ENSP00000501039.2:n.2459-7T>C
ENST00000684977.1:c.136-7T>C	ENSP00000509384.1:n.136-7T>C
ENST00000685168.1:c.344-7T>C
ENST00000689544.1:n.71-7T>C
ENST00000691421.1:c.139-7T>C	ENSP00000508674.1:n.139-7T>C
ENST00000691855.1:c.4460-7T>C
ENST00000692961.1:c.4918-7T>C	ENSP00000509289.1:n.4918-7T>C
ENST00000420124.4:c.4918-7T>C MANE Select	ENSP00000398837.2:n.4918-7T>C
ENST00000673918.1:c.4852-7T>C	ENSP00000501283.1:n.4852-7T>C
ENST00000674114.1:c.2240-7T>C
ENST00000420124.2:c.4918-7T>C	ENSP00000398837.1:n.4918-7T>C
NM_014727.2:c.4918-7T>C	NP_055542.1:n.4918-7T>C
XM_011527561.1:c.4852-7T>C	XP_011525863.1:n.4852-7T>C
XM_011527562.1:c.4918-7T>C	XP_011525864.1:n.4918-7T>C
XM_011527563.1:c.4642-7T>C	XP_011525865.1:n.4642-7T>C
XM_011527561.2:c.4354-7T>C	XP_011525863.2:n.4354-7T>C
XM_011527562.2:c.4918-7T>C	XP_011525864.1:n.4918-7T>C
XM_017027544.1:c.4918-7T>C	XP_016883033.1:n.4918-7T>C
XM_017027545.1:c.4354-7T>C	XP_016883034.1:n.4354-7T>C
XM_017027546.1:c.1882-7T>C	XP_016883035.1:n.1882-7T>C
NM_014727.3:c.4918-7T>C MANE Select	NP_055542.1:n.4918-7T>C