Canonical Allele Identifier: CA507308768

Gene: KMT2B

Linked Data

• gnomAD v4: 19-35732759-T-C
• MyVariant Identifiers: chr19:g.36223660T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732759T>C , CM000681.2:g.35732759T>C	GRCh38
NC_000019.9:g.36223660T>C , CM000681.1:g.36223660T>C	GRCh37
NC_000019.8:g.40915500T>C	NCBI36
NG_052906.1:g.19741T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.516T>C
ENST00000673918.2:c.6144T>C	ENSP00000501283.1:p.Ser2048=
ENST00000674114.2:c.3751T>C	ENSP00000501039.2:n.3751T>C
ENST00000684977.1:c.1428T>C	ENSP00000509384.1:p.Ser476=
ENST00000689544.1:n.1363T>C
ENST00000691421.1:c.1431T>C	ENSP00000508674.1:p.Ser477=
ENST00000691855.1:c.5752T>C
ENST00000692961.1:c.6210T>C	ENSP00000509289.1:p.Ser2070=
ENST00000693677.1:c.704+430T>C	ENSP00000509779.1:n.704+430T>C
ENST00000420124.4:c.6210T>C MANE Select	ENSP00000398837.2:p.Ser2070=
ENST00000673918.1:c.6144T>C	ENSP00000501283.1:p.Ser2048=
ENST00000674114.1:c.3532T>C
ENST00000420124.2:c.6210T>C	ENSP00000398837.1:p.Ser2070=
NM_014727.2:c.6210T>C	NP_055542.1:p.Ser2070=
XM_011527561.1:c.6144T>C	XP_011525863.1:p.Ser2048=
XM_011527562.1:c.6210T>C	XP_011525864.1:p.Ser2070=
XM_011527563.1:c.5934T>C	XP_011525865.1:p.Ser1978=
XM_011527561.2:c.5646T>C	XP_011525863.2:p.Ser1882=
XM_011527562.2:c.6210T>C	XP_011525864.1:p.Ser2070=
XM_017027544.1:c.6210T>C	XP_016883033.1:p.Ser2070=
XM_017027545.1:c.5646T>C	XP_016883034.1:p.Ser1882=
XM_017027546.1:c.3174T>C	XP_016883035.1:p.Ser1058=
NM_014727.3:c.6210T>C MANE Select	NP_055542.1:p.Ser2070=