Canonical Allele Identifier: CA405424655

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223388A>C (hg19) ; chr19:g.35732487A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732487A>C , CM000681.2:g.35732487A>C	GRCh38
NC_000019.9:g.36223388A>C , CM000681.1:g.36223388A>C	GRCh37
NC_000019.8:g.40915228A>C	NCBI36
NG_052906.1:g.19469A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.244A>C
ENST00000673918.2:c.5872A>C	ENSP00000501283.1:p.Met1958Leu
ENST00000674114.2:c.3479A>C	ENSP00000501039.2:n.3479A>C
ENST00000684977.1:c.1156A>C	ENSP00000509384.1:p.Met386Leu
ENST00000689544.1:n.1091A>C
ENST00000691421.1:c.1159A>C	ENSP00000508674.1:p.Met387Leu
ENST00000691855.1:c.5480A>C
ENST00000692961.1:c.5938A>C	ENSP00000509289.1:p.Met1980Leu
ENST00000693677.1:c.704+158A>C	ENSP00000509779.1:n.704+158A>C
ENST00000420124.4:c.5938A>C MANE Select	ENSP00000398837.2:p.Met1980Leu
ENST00000673918.1:c.5872A>C	ENSP00000501283.1:p.Met1958Leu
ENST00000674114.1:c.3260A>C
ENST00000420124.2:c.5938A>C	ENSP00000398837.1:p.Met1980Leu
NM_014727.2:c.5938A>C	NP_055542.1:p.Met1980Leu
XM_011527561.1:c.5872A>C	XP_011525863.1:p.Met1958Leu
XM_011527562.1:c.5938A>C	XP_011525864.1:p.Met1980Leu
XM_011527563.1:c.5662A>C	XP_011525865.1:p.Met1888Leu
XM_011527561.2:c.5374A>C	XP_011525863.2:p.Met1792Leu
XM_011527562.2:c.5938A>C	XP_011525864.1:p.Met1980Leu
XM_017027544.1:c.5938A>C	XP_016883033.1:p.Met1980Leu
XM_017027545.1:c.5374A>C	XP_016883034.1:p.Met1792Leu
XM_017027546.1:c.2902A>C	XP_016883035.1:p.Met968Leu
NM_014727.3:c.5938A>C MANE Select	NP_055542.1:p.Met1980Leu