Canonical Allele Identifier: CA384729020

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49428255C>G (hg19) ; chr12:g.49034472C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49034472C>G , CM000674.2:g.49034472C>G	GRCh38
NC_000012.11:g.49428255C>G , CM000674.1:g.49428255C>G	GRCh37
NC_000012.10:g.47714522C>G	NCBI36
NG_027827.1:g.25853G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.10445G>C	ENSP00000506726.1:p.Arg3482Pro
ENST00000685166.1:c.10454G>C	ENSP00000509386.1:p.Arg3485Pro
ENST00000685554.1:c.5G>C	ENSP00000508640.1:p.Arg2Pro
ENST00000687201.1:c.2024G>C	ENSP00000510037.1:p.Arg675Pro
ENST00000692637.1:c.10442G>C	ENSP00000509666.1:p.Arg3481Pro
ENST00000692841.1:c.1924G>C	ENSP00000508711.1:p.Gly642Arg
ENST00000301067.12:c.10445G>C MANE Select	ENSP00000301067.7:p.Arg3482Pro
ENST00000301067.11:c.10445G>C	ENSP00000301067.7:p.Arg3482Pro
NM_003482.3:c.10445G>C	NP_003473.3:p.Arg3482Pro
XM_005269162.3:c.10445G>C	XP_005269219.1:p.Arg3482Pro
XM_006719614.2:c.10454G>C	XP_006719677.1:p.Arg3485Pro
XM_006719616.2:c.10442G>C	XP_006719679.1:p.Arg3481Pro
XM_011538770.1:c.10454G>C	XP_011537072.1:p.Arg3485Pro
XM_011538771.1:c.10451G>C	XP_011537073.1:p.Arg3484Pro
XM_011538772.1:c.10445G>C	XP_011537074.1:p.Arg3482Pro
XM_011538773.1:c.10442G>C	XP_011537075.1:p.Arg3481Pro
XM_011538774.1:c.10433G>C	XP_011537076.1:p.Arg3478Pro
XM_011538775.1:c.10454G>C	XP_011537077.1:p.Arg3485Pro
XM_011538776.1:c.10361G>C	XP_011537078.1:p.Arg3454Pro
XR_944740.1:n.12774G>C
XM_005269162.4:c.10445G>C	XP_005269219.1:p.Arg3482Pro
XM_006719614.4:c.10454G>C	XP_006719677.1:p.Arg3485Pro
XM_006719616.3:c.10442G>C	XP_006719679.1:p.Arg3481Pro
XM_011538770.2:c.10454G>C	XP_011537072.1:p.Arg3485Pro
XM_011538771.2:c.10451G>C	XP_011537073.1:p.Arg3484Pro
XM_011538772.2:c.10445G>C	XP_011537074.1:p.Arg3482Pro
XM_011538773.2:c.10442G>C	XP_011537075.1:p.Arg3481Pro
XM_011538774.2:c.10433G>C	XP_011537076.1:p.Arg3478Pro
XM_011538776.2:c.10361G>C	XP_011537078.1:p.Arg3454Pro
XR_001748874.1:n.11763G>C
NM_003482.4:c.10445G>C MANE Select	NP_003473.3:p.Arg3482Pro