Canonical Allele Identifier: CA160587

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49034911T>C , CM000674.2:g.49034911T>C	GRCh38
NC_000012.11:g.49428694T>C , CM000674.1:g.49428694T>C	GRCh37
NC_000012.10:g.47714961T>C	NCBI36
NG_027827.1:g.25414A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.10256A>G	ENSP00000506726.1:p.Asp3419Gly
ENST00000685166.1:c.10265A>G	ENSP00000509386.1:p.Asp3422Gly
ENST00000687201.1:c.1820A>G	ENSP00000510037.1:p.Asp607Gly
ENST00000689143.1:c.3859A>G	ENSP00000509839.1:n.3859A>G
ENST00000692637.1:c.10253A>G	ENSP00000509666.1:p.Asp3418Gly
ENST00000692841.1:c.1820A>G	ENSP00000508711.1:p.Asp607Gly
ENST00000301067.12:c.10256A>G MANE Select	ENSP00000301067.7:p.Asp3419Gly
ENST00000301067.11:c.10256A>G	ENSP00000301067.7:p.Asp3419Gly
NM_003482.3:c.10256A>G	NP_003473.3:p.Asp3419Gly
XM_005269162.3:c.10256A>G	XP_005269219.1:p.Asp3419Gly
XM_006719614.2:c.10265A>G	XP_006719677.1:p.Asp3422Gly
XM_006719616.2:c.10253A>G	XP_006719679.1:p.Asp3418Gly
XM_011538770.1:c.10265A>G	XP_011537072.1:p.Asp3422Gly
XM_011538771.1:c.10262A>G	XP_011537073.1:p.Asp3421Gly
XM_011538772.1:c.10256A>G	XP_011537074.1:p.Asp3419Gly
XM_011538773.1:c.10253A>G	XP_011537075.1:p.Asp3418Gly
XM_011538774.1:c.10244A>G	XP_011537076.1:p.Asp3415Gly
XM_011538775.1:c.10265A>G	XP_011537077.1:p.Asp3422Gly
XM_011538776.1:c.10172A>G	XP_011537078.1:p.Asp3391Gly
XR_944740.1:n.12585A>G
XM_005269162.4:c.10256A>G	XP_005269219.1:p.Asp3419Gly
XM_006719614.4:c.10265A>G	XP_006719677.1:p.Asp3422Gly
XM_006719616.3:c.10253A>G	XP_006719679.1:p.Asp3418Gly
XM_011538770.2:c.10265A>G	XP_011537072.1:p.Asp3422Gly
XM_011538771.2:c.10262A>G	XP_011537073.1:p.Asp3421Gly
XM_011538772.2:c.10256A>G	XP_011537074.1:p.Asp3419Gly
XM_011538773.2:c.10253A>G	XP_011537075.1:p.Asp3418Gly
XM_011538774.2:c.10244A>G	XP_011537076.1:p.Asp3415Gly
XM_011538776.2:c.10172A>G	XP_011537078.1:p.Asp3391Gly
XR_001748874.1:n.11574A>G
NM_003482.4:c.10256A>G MANE Select	NP_003473.3:p.Asp3419Gly