Canonical Allele Identifier: CA405429653

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2692561
• ClinVar RCV Id: RCV003542592
• gnomAD v4: 19-35733189-C-A
• MyVariant Identifiers: chr19:g.36224090C>A (hg19) ; chr19:g.35733189C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733189C>A , CM000681.2:g.35733189C>A	GRCh38
NC_000019.9:g.36224090C>A , CM000681.1:g.36224090C>A	GRCh37
NC_000019.8:g.40915930C>A	NCBI36
NG_052906.1:g.20171C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.946C>A
ENST00000673918.2:c.6574C>A	ENSP00000501283.1:p.Pro2192Thr
ENST00000674114.2:c.4181C>A	ENSP00000501039.2:n.4181C>A
ENST00000684977.1:c.1858C>A	ENSP00000509384.1:p.Pro620Thr
ENST00000689544.1:n.1793C>A
ENST00000691421.1:c.1861C>A	ENSP00000508674.1:p.Pro621Thr
ENST00000691855.1:c.6182C>A
ENST00000692961.1:c.6640C>A	ENSP00000509289.1:p.Pro2214Thr
ENST00000693677.1:c.705-408C>A	ENSP00000509779.1:n.705-408C>A
ENST00000420124.4:c.6640C>A MANE Select	ENSP00000398837.2:p.Pro2214Thr
ENST00000673918.1:c.6574C>A	ENSP00000501283.1:p.Pro2192Thr
ENST00000674114.1:c.3962C>A
ENST00000420124.2:c.6640C>A	ENSP00000398837.1:p.Pro2214Thr
NM_014727.2:c.6640C>A	NP_055542.1:p.Pro2214Thr
XM_011527561.1:c.6574C>A	XP_011525863.1:p.Pro2192Thr
XM_011527562.1:c.6640C>A	XP_011525864.1:p.Pro2214Thr
XM_011527563.1:c.6364C>A	XP_011525865.1:p.Pro2122Thr
XM_011527561.2:c.6076C>A	XP_011525863.2:p.Pro2026Thr
XM_011527562.2:c.6640C>A	XP_011525864.1:p.Pro2214Thr
XM_017027544.1:c.6640C>A	XP_016883033.1:p.Pro2214Thr
XM_017027545.1:c.6076C>A	XP_016883034.1:p.Pro2026Thr
XM_017027546.1:c.3604C>A	XP_016883035.1:p.Pro1202Thr
NM_014727.3:c.6640C>A MANE Select	NP_055542.1:p.Pro2214Thr