Canonical Allele Identifier: CA405424626

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223382G>C (hg19) ; chr19:g.35732481G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732481G>C , CM000681.2:g.35732481G>C	GRCh38
NC_000019.9:g.36223382G>C , CM000681.1:g.36223382G>C	GRCh37
NC_000019.8:g.40915222G>C	NCBI36
NG_052906.1:g.19463G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.238G>C
ENST00000673918.2:c.5866G>C	ENSP00000501283.1:p.Glu1956Gln
ENST00000674114.2:c.3473G>C	ENSP00000501039.2:n.3473G>C
ENST00000684977.1:c.1150G>C	ENSP00000509384.1:p.Glu384Gln
ENST00000689544.1:n.1085G>C
ENST00000691421.1:c.1153G>C	ENSP00000508674.1:p.Glu385Gln
ENST00000691855.1:c.5474G>C
ENST00000692961.1:c.5932G>C	ENSP00000509289.1:p.Glu1978Gln
ENST00000693677.1:c.704+152G>C	ENSP00000509779.1:n.704+152G>C
ENST00000420124.4:c.5932G>C MANE Select	ENSP00000398837.2:p.Glu1978Gln
ENST00000673918.1:c.5866G>C	ENSP00000501283.1:p.Glu1956Gln
ENST00000674114.1:c.3254G>C
ENST00000420124.2:c.5932G>C	ENSP00000398837.1:p.Glu1978Gln
NM_014727.2:c.5932G>C	NP_055542.1:p.Glu1978Gln
XM_011527561.1:c.5866G>C	XP_011525863.1:p.Glu1956Gln
XM_011527562.1:c.5932G>C	XP_011525864.1:p.Glu1978Gln
XM_011527563.1:c.5656G>C	XP_011525865.1:p.Glu1886Gln
XM_011527561.2:c.5368G>C	XP_011525863.2:p.Glu1790Gln
XM_011527562.2:c.5932G>C	XP_011525864.1:p.Glu1978Gln
XM_017027544.1:c.5932G>C	XP_016883033.1:p.Glu1978Gln
XM_017027545.1:c.5368G>C	XP_016883034.1:p.Glu1790Gln
XM_017027546.1:c.2896G>C	XP_016883035.1:p.Glu966Gln
NM_014727.3:c.5932G>C MANE Select	NP_055542.1:p.Glu1978Gln