Canonical Allele Identifier: CA384729055

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49034580A>C , CM000674.2:g.49034580A>C	GRCh38
NC_000012.11:g.49428363A>C , CM000674.1:g.49428363A>C	GRCh37
NC_000012.10:g.47714630A>C	NCBI36
NG_027827.1:g.25745T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.10440+2T>G MANE Select	NP_003473.3:n.10440+2T>G
ENST00000301067.12:c.10440+2T>G MANE Select	ENSP00000301067.7:n.10440+2T>G
NM_003482.3:c.10440+2T>G	NP_003473.3:n.10440+2T>G
ENST00000301067.11:c.10440+2T>G	ENSP00000301067.7:n.10440+2T>G
ENST00000683543.2:c.10440+2T>G	ENSP00000506726.1:n.10440+2T>G
ENST00000685166.1:c.10449+2T>G	ENSP00000509386.1:n.10449+2T>G
ENST00000687201.1:c.2004+2T>G	ENSP00000510037.1:n.2004+2T>G
ENST00000692637.1:c.10437+2T>G	ENSP00000509666.1:n.10437+2T>G
ENST00000692841.1:c.1920-104T>G	ENSP00000508711.1:n.1920-104T>G
XM_005269162.3:c.10440+2T>G	XP_005269219.1:n.10440+2T>G
XM_005269162.4:c.10440+2T>G	XP_005269219.1:n.10440+2T>G
XM_006719614.2:c.10449+2T>G	XP_006719677.1:n.10449+2T>G
XM_006719614.4:c.10449+2T>G	XP_006719677.1:n.10449+2T>G
XM_006719616.2:c.10437+2T>G	XP_006719679.1:n.10437+2T>G
XM_006719616.3:c.10437+2T>G	XP_006719679.1:n.10437+2T>G
XM_011538770.1:c.10449+2T>G	XP_011537072.1:n.10449+2T>G
XM_011538770.2:c.10449+2T>G	XP_011537072.1:n.10449+2T>G
XM_011538771.1:c.10446+2T>G	XP_011537073.1:n.10446+2T>G
XM_011538771.2:c.10446+2T>G	XP_011537073.1:n.10446+2T>G
XM_011538772.1:c.10440+2T>G	XP_011537074.1:n.10440+2T>G
XM_011538772.2:c.10440+2T>G	XP_011537074.1:n.10440+2T>G
XM_011538773.1:c.10437+2T>G	XP_011537075.1:n.10437+2T>G
XM_011538773.2:c.10437+2T>G	XP_011537075.1:n.10437+2T>G
XM_011538774.1:c.10428+2T>G	XP_011537076.1:n.10428+2T>G
XM_011538774.2:c.10428+2T>G	XP_011537076.1:n.10428+2T>G
XM_011538775.1:c.10449+2T>G	XP_011537077.1:n.10449+2T>G
XM_011538776.1:c.10356+2T>G	XP_011537078.1:n.10356+2T>G
XM_011538776.2:c.10356+2T>G	XP_011537078.1:n.10356+2T>G
XR_001748874.1:n.11758+2T>G
XR_944740.1:n.12769+2T>G