Canonical Allele Identifier: CA405427935

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223796T>C (hg19) ; chr19:g.35732895T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732895T>C , CM000681.2:g.35732895T>C	GRCh38
NC_000019.9:g.36223796T>C , CM000681.1:g.36223796T>C	GRCh37
NC_000019.8:g.40915636T>C	NCBI36
NG_052906.1:g.19877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.652T>C
ENST00000673918.2:c.6280T>C	ENSP00000501283.1:p.Phe2094Leu
ENST00000674114.2:c.3887T>C	ENSP00000501039.2:n.3887T>C
ENST00000684977.1:c.1564T>C	ENSP00000509384.1:p.Phe522Leu
ENST00000689544.1:n.1499T>C
ENST00000691421.1:c.1567T>C	ENSP00000508674.1:p.Phe523Leu
ENST00000691855.1:c.5888T>C
ENST00000692961.1:c.6346T>C	ENSP00000509289.1:p.Phe2116Leu
ENST00000693677.1:c.704+566T>C	ENSP00000509779.1:n.704+566T>C
ENST00000420124.4:c.6346T>C MANE Select	ENSP00000398837.2:p.Phe2116Leu
ENST00000673918.1:c.6280T>C	ENSP00000501283.1:p.Phe2094Leu
ENST00000674114.1:c.3668T>C
ENST00000420124.2:c.6346T>C	ENSP00000398837.1:p.Phe2116Leu
NM_014727.2:c.6346T>C	NP_055542.1:p.Phe2116Leu
XM_011527561.1:c.6280T>C	XP_011525863.1:p.Phe2094Leu
XM_011527562.1:c.6346T>C	XP_011525864.1:p.Phe2116Leu
XM_011527563.1:c.6070T>C	XP_011525865.1:p.Phe2024Leu
XM_011527561.2:c.5782T>C	XP_011525863.2:p.Phe1928Leu
XM_011527562.2:c.6346T>C	XP_011525864.1:p.Phe2116Leu
XM_017027544.1:c.6346T>C	XP_016883033.1:p.Phe2116Leu
XM_017027545.1:c.5782T>C	XP_016883034.1:p.Phe1928Leu
XM_017027546.1:c.3310T>C	XP_016883035.1:p.Phe1104Leu
NM_014727.3:c.6346T>C MANE Select	NP_055542.1:p.Phe2116Leu