Canonical Allele Identifier: CA384748956

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49040710G>C , CM000674.2:g.49040710G>C	GRCh38
NC_000012.11:g.49434493G>C , CM000674.1:g.49434493G>C	GRCh37
NC_000012.10:g.47720760G>C	NCBI36
NG_027827.1:g.19615C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.7060C>G MANE Select	NP_003473.3:p.Pro2354Ala
ENST00000301067.12:c.7060C>G MANE Select	ENSP00000301067.7:p.Pro2354Ala
NM_003482.3:c.7060C>G	NP_003473.3:p.Pro2354Ala
ENST00000301067.11:c.7060C>G	ENSP00000301067.7:p.Pro2354Ala
ENST00000683543.2:c.7060C>G	ENSP00000506726.1:p.Pro2354Ala
ENST00000685166.1:c.7069C>G	ENSP00000509386.1:p.Pro2357Ala
ENST00000689060.1:c.1079C>G
ENST00000689143.1:c.733C>G	ENSP00000509839.1:p.Pro245Ala
ENST00000689944.1:c.1169C>G
ENST00000692637.1:c.7057C>G	ENSP00000509666.1:p.Pro2353Ala
XM_005269162.3:c.7060C>G	XP_005269219.1:p.Pro2354Ala
XM_005269162.4:c.7060C>G	XP_005269219.1:p.Pro2354Ala
XM_006719614.2:c.7069C>G	XP_006719677.1:p.Pro2357Ala
XM_006719614.4:c.7069C>G	XP_006719677.1:p.Pro2357Ala
XM_006719616.2:c.7057C>G	XP_006719679.1:p.Pro2353Ala
XM_006719616.3:c.7057C>G	XP_006719679.1:p.Pro2353Ala
XM_011538770.1:c.7069C>G	XP_011537072.1:p.Pro2357Ala
XM_011538770.2:c.7069C>G	XP_011537072.1:p.Pro2357Ala
XM_011538771.1:c.7066C>G	XP_011537073.1:p.Pro2356Ala
XM_011538771.2:c.7066C>G	XP_011537073.1:p.Pro2356Ala
XM_011538772.1:c.7060C>G	XP_011537074.1:p.Pro2354Ala
XM_011538772.2:c.7060C>G	XP_011537074.1:p.Pro2354Ala
XM_011538773.1:c.7057C>G	XP_011537075.1:p.Pro2353Ala
XM_011538773.2:c.7057C>G	XP_011537075.1:p.Pro2353Ala
XM_011538774.1:c.7048C>G	XP_011537076.1:p.Pro2350Ala
XM_011538774.2:c.7048C>G	XP_011537076.1:p.Pro2350Ala
XM_011538775.1:c.7069C>G	XP_011537077.1:p.Pro2357Ala
XM_011538776.1:c.6976C>G	XP_011537078.1:p.Pro2326Ala
XM_011538776.2:c.6976C>G	XP_011537078.1:p.Pro2326Ala
XR_001748874.1:n.8378C>G
XR_944740.1:n.9389C>G