Canonical Allele Identifier: CA405429661

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35733190-C-T
• MyVariant Identifiers: chr19:g.36224091C>T (hg19) ; chr19:g.35733190C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35733190C>T , CM000681.2:g.35733190C>T	GRCh38
NC_000019.9:g.36224091C>T , CM000681.1:g.36224091C>T	GRCh37
NC_000019.8:g.40915931C>T	NCBI36
NG_052906.1:g.20172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.947C>T
ENST00000673918.2:c.6575C>T	ENSP00000501283.1:p.Pro2192Leu
ENST00000674114.2:c.4182C>T	ENSP00000501039.2:n.4182C>T
ENST00000684977.1:c.1859C>T	ENSP00000509384.1:p.Pro620Leu
ENST00000689544.1:n.1794C>T
ENST00000691421.1:c.1862C>T	ENSP00000508674.1:p.Pro621Leu
ENST00000691855.1:c.6183C>T
ENST00000692961.1:c.6641C>T	ENSP00000509289.1:p.Pro2214Leu
ENST00000693677.1:c.705-407C>T	ENSP00000509779.1:n.705-407C>T
ENST00000420124.4:c.6641C>T MANE Select	ENSP00000398837.2:p.Pro2214Leu
ENST00000673918.1:c.6575C>T	ENSP00000501283.1:p.Pro2192Leu
ENST00000674114.1:c.3963C>T
ENST00000420124.2:c.6641C>T	ENSP00000398837.1:p.Pro2214Leu
NM_014727.2:c.6641C>T	NP_055542.1:p.Pro2214Leu
XM_011527561.1:c.6575C>T	XP_011525863.1:p.Pro2192Leu
XM_011527562.1:c.6641C>T	XP_011525864.1:p.Pro2214Leu
XM_011527563.1:c.6365C>T	XP_011525865.1:p.Pro2122Leu
XM_011527561.2:c.6077C>T	XP_011525863.2:p.Pro2026Leu
XM_011527562.2:c.6641C>T	XP_011525864.1:p.Pro2214Leu
XM_017027544.1:c.6641C>T	XP_016883033.1:p.Pro2214Leu
XM_017027545.1:c.6077C>T	XP_016883034.1:p.Pro2026Leu
XM_017027546.1:c.3605C>T	XP_016883035.1:p.Pro1202Leu
NM_014727.3:c.6641C>T MANE Select	NP_055542.1:p.Pro2214Leu