Canonical Allele Identifier: CA2575160630

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039425C>A , CM000674.2:g.49039425C>A	GRCh38
NC_000012.11:g.49433208C>A , CM000674.1:g.49433208C>A	GRCh37
NC_000012.10:g.47719475C>A	NCBI36
NG_027827.1:g.20900G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8229+10G>T	ENSP00000506726.1:n.8229+10G>T
ENST00000685166.1:c.8238+10G>T	ENSP00000509386.1:n.8238+10G>T
ENST00000689060.1:c.2248+10G>T
ENST00000689143.1:c.1902+10G>T	ENSP00000509839.1:n.1902+10G>T
ENST00000689944.1:c.2338+10G>T
ENST00000692637.1:c.8226+10G>T	ENSP00000509666.1:n.8226+10G>T
ENST00000301067.12:c.8229+10G>T MANE Select	ENSP00000301067.7:n.8229+10G>T
ENST00000301067.11:c.8229+10G>T	ENSP00000301067.7:n.8229+10G>T
NM_003482.3:c.8229+10G>T	NP_003473.3:n.8229+10G>T
XM_005269162.3:c.8229+10G>T	XP_005269219.1:n.8229+10G>T
XM_006719614.2:c.8238+10G>T	XP_006719677.1:n.8238+10G>T
XM_006719616.2:c.8226+10G>T	XP_006719679.1:n.8226+10G>T
XM_011538770.1:c.8238+10G>T	XP_011537072.1:n.8238+10G>T
XM_011538771.1:c.8235+10G>T	XP_011537073.1:n.8235+10G>T
XM_011538772.1:c.8229+10G>T	XP_011537074.1:n.8229+10G>T
XM_011538773.1:c.8226+10G>T	XP_011537075.1:n.8226+10G>T
XM_011538774.1:c.8217+10G>T	XP_011537076.1:n.8217+10G>T
XM_011538775.1:c.8238+10G>T	XP_011537077.1:n.8238+10G>T
XM_011538776.1:c.8145+10G>T	XP_011537078.1:n.8145+10G>T
XR_944740.1:n.10558+10G>T
XM_005269162.4:c.8229+10G>T	XP_005269219.1:n.8229+10G>T
XM_006719614.4:c.8238+10G>T	XP_006719677.1:n.8238+10G>T
XM_006719616.3:c.8226+10G>T	XP_006719679.1:n.8226+10G>T
XM_011538770.2:c.8238+10G>T	XP_011537072.1:n.8238+10G>T
XM_011538771.2:c.8235+10G>T	XP_011537073.1:n.8235+10G>T
XM_011538772.2:c.8229+10G>T	XP_011537074.1:n.8229+10G>T
XM_011538773.2:c.8226+10G>T	XP_011537075.1:n.8226+10G>T
XM_011538774.2:c.8217+10G>T	XP_011537076.1:n.8217+10G>T
XM_011538776.2:c.8145+10G>T	XP_011537078.1:n.8145+10G>T
XR_001748874.1:n.9547+10G>T
NM_003482.4:c.8229+10G>T MANE Select	NP_003473.3:n.8229+10G>T