Canonical Allele Identifier: CA405419347

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36221019A>C (hg19) ; chr19:g.35730118A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730118A>C , CM000681.2:g.35730118A>C	GRCh38
NC_000019.9:g.36221019A>C , CM000681.1:g.36221019A>C	GRCh37
NC_000019.8:g.40912859A>C	NCBI36
NG_052906.1:g.17100A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.5003A>C	ENSP00000501283.1:p.Asp1668Ala
ENST00000674114.2:c.2610A>C	ENSP00000501039.2:n.2610A>C
ENST00000684977.1:c.287A>C	ENSP00000509384.1:p.Asp96Ala
ENST00000685168.1:c.495A>C
ENST00000689544.1:n.222A>C
ENST00000691421.1:c.290A>C	ENSP00000508674.1:p.Asp97Ala
ENST00000691855.1:c.4611A>C
ENST00000692961.1:c.5069A>C	ENSP00000509289.1:p.Asp1690Ala
ENST00000420124.4:c.5069A>C MANE Select	ENSP00000398837.2:p.Asp1690Ala
ENST00000673918.1:c.5003A>C	ENSP00000501283.1:p.Asp1668Ala
ENST00000674114.1:c.2391A>C
ENST00000420124.2:c.5069A>C	ENSP00000398837.1:p.Asp1690Ala
NM_014727.2:c.5069A>C	NP_055542.1:p.Asp1690Ala
XM_011527561.1:c.5003A>C	XP_011525863.1:p.Asp1668Ala
XM_011527562.1:c.5069A>C	XP_011525864.1:p.Asp1690Ala
XM_011527563.1:c.4793A>C	XP_011525865.1:p.Asp1598Ala
XM_011527561.2:c.4505A>C	XP_011525863.2:p.Asp1502Ala
XM_011527562.2:c.5069A>C	XP_011525864.1:p.Asp1690Ala
XM_017027544.1:c.5069A>C	XP_016883033.1:p.Asp1690Ala
XM_017027545.1:c.4505A>C	XP_016883034.1:p.Asp1502Ala
XM_017027546.1:c.2033A>C	XP_016883035.1:p.Asp678Ala
NM_014727.3:c.5069A>C MANE Select	NP_055542.1:p.Asp1690Ala