Canonical Allele Identifier: CA384628250

Gene: KMT2D

Linked Data

• dbSNP Id: rs1592140072
• MyVariant Identifiers: chr12:g.49436392G>T (hg19) ; chr12:g.49042609G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042609G>T , CM000674.2:g.49042609G>T	GRCh38
NC_000012.11:g.49436392G>T , CM000674.1:g.49436392G>T	GRCh37
NC_000012.10:g.47722659G>T	NCBI36
NG_027827.1:g.17716C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.631C>A
ENST00000683543.2:c.5819C>A	ENSP00000506726.1:p.Pro1940Gln
ENST00000685166.1:c.5828C>A	ENSP00000509386.1:p.Pro1943Gln
ENST00000688095.1:c.1768C>A	ENSP00000510007.1:n.1768C>A
ENST00000692637.1:c.5816C>A	ENSP00000509666.1:p.Pro1939Gln
ENST00000301067.12:c.5819C>A MANE Select	ENSP00000301067.7:p.Pro1940Gln
ENST00000301067.11:c.5819C>A	ENSP00000301067.7:p.Pro1940Gln
NM_003482.3:c.5819C>A	NP_003473.3:p.Pro1940Gln
XM_005269162.3:c.5819C>A	XP_005269219.1:p.Pro1940Gln
XM_006719614.2:c.5828C>A	XP_006719677.1:p.Pro1943Gln
XM_006719616.2:c.5816C>A	XP_006719679.1:p.Pro1939Gln
XM_011538770.1:c.5828C>A	XP_011537072.1:p.Pro1943Gln
XM_011538771.1:c.5825C>A	XP_011537073.1:p.Pro1942Gln
XM_011538772.1:c.5819C>A	XP_011537074.1:p.Pro1940Gln
XM_011538773.1:c.5816C>A	XP_011537075.1:p.Pro1939Gln
XM_011538774.1:c.5828C>A	XP_011537076.1:p.Pro1943Gln
XM_011538775.1:c.5828C>A	XP_011537077.1:p.Pro1943Gln
XM_011538776.1:c.5828C>A	XP_011537078.1:p.Pro1943Gln
XR_944740.1:n.8148C>A
XM_005269162.4:c.5819C>A	XP_005269219.1:p.Pro1940Gln
XM_006719614.4:c.5828C>A	XP_006719677.1:p.Pro1943Gln
XM_006719616.3:c.5816C>A	XP_006719679.1:p.Pro1939Gln
XM_011538770.2:c.5828C>A	XP_011537072.1:p.Pro1943Gln
XM_011538771.2:c.5825C>A	XP_011537073.1:p.Pro1942Gln
XM_011538772.2:c.5819C>A	XP_011537074.1:p.Pro1940Gln
XM_011538773.2:c.5816C>A	XP_011537075.1:p.Pro1939Gln
XM_011538774.2:c.5828C>A	XP_011537076.1:p.Pro1943Gln
XM_011538776.2:c.5828C>A	XP_011537078.1:p.Pro1943Gln
XR_001748874.1:n.7137C>A
NM_003482.4:c.5819C>A MANE Select	NP_003473.3:p.Pro1940Gln