Canonical Allele Identifier: CA507308094

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 747835
• ClinVar RCV Id: RCV000924581
• dbSNP Id: rs1599694184
• MyVariant Identifiers: chr19:g.36223402A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732501A>C , CM000681.2:g.35732501A>C	GRCh38
NC_000019.9:g.36223402A>C , CM000681.1:g.36223402A>C	GRCh37
NC_000019.8:g.40915242A>C	NCBI36
NG_052906.1:g.19483A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.258A>C
ENST00000673918.2:c.5886A>C	ENSP00000501283.1:p.Ser1962=
ENST00000674114.2:c.3493A>C	ENSP00000501039.2:n.3493A>C
ENST00000684977.1:c.1170A>C	ENSP00000509384.1:p.Ser390=
ENST00000689544.1:n.1105A>C
ENST00000691421.1:c.1173A>C	ENSP00000508674.1:p.Ser391=
ENST00000691855.1:c.5494A>C
ENST00000692961.1:c.5952A>C	ENSP00000509289.1:p.Ser1984=
ENST00000693677.1:c.704+172A>C	ENSP00000509779.1:n.704+172A>C
ENST00000420124.4:c.5952A>C MANE Select	ENSP00000398837.2:p.Ser1984=
ENST00000673918.1:c.5886A>C	ENSP00000501283.1:p.Ser1962=
ENST00000674114.1:c.3274A>C
ENST00000420124.2:c.5952A>C	ENSP00000398837.1:p.Ser1984=
NM_014727.2:c.5952A>C	NP_055542.1:p.Ser1984=
XM_011527561.1:c.5886A>C	XP_011525863.1:p.Ser1962=
XM_011527562.1:c.5952A>C	XP_011525864.1:p.Ser1984=
XM_011527563.1:c.5676A>C	XP_011525865.1:p.Ser1892=
XM_011527561.2:c.5388A>C	XP_011525863.2:p.Ser1796=
XM_011527562.2:c.5952A>C	XP_011525864.1:p.Ser1984=
XM_017027544.1:c.5952A>C	XP_016883033.1:p.Ser1984=
XM_017027545.1:c.5388A>C	XP_016883034.1:p.Ser1796=
XM_017027546.1:c.2916A>C	XP_016883035.1:p.Ser972=
NM_014727.3:c.5952A>C MANE Select	NP_055542.1:p.Ser1984=