Canonical Allele Identifier: CA2795900926

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022459G>A , CM000674.2:g.49022459G>A	GRCh38
NC_000012.11:g.49416242G>A , CM000674.1:g.49416242G>A	GRCh37
NC_000012.10:g.47702509G>A	NCBI36
NG_027827.1:g.37866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.309-106C>T
ENST00000681974.1:n.1011-106C>T
ENST00000682693.1:n.1973-106C>T
ENST00000682886.1:n.639C>T
ENST00000683543.2:c.16387-106C>T	ENSP00000506726.1:n.16387-106C>T
ENST00000683988.1:c.310-106C>T	ENSP00000506939.1:n.310-106C>T
ENST00000684428.1:c.874-48C>T	ENSP00000507433.1:n.874-48C>T
ENST00000685024.1:c.1493-106C>T
ENST00000685166.1:c.16348-106C>T	ENSP00000509386.1:n.16348-106C>T
ENST00000691932.1:c.340-106C>T	ENSP00000509037.1:n.340-106C>T
ENST00000692637.1:c.16336-106C>T	ENSP00000509666.1:n.16336-106C>T
ENST00000301067.12:c.16339-106C>T MANE Select	ENSP00000301067.7:n.16339-106C>T
ENST00000301067.11:c.16339-106C>T	ENSP00000301067.7:n.16339-106C>T
ENST00000526209.1:c.382-106C>T	ENSP00000435714.1:n.382-106C>T
NM_003482.3:c.16339-106C>T	NP_003473.3:n.16339-106C>T
XM_005269162.3:c.16339-106C>T	XP_005269219.1:n.16339-106C>T
XM_006719614.2:c.16348-106C>T	XP_006719677.1:n.16348-106C>T
XM_006719616.2:c.16336-106C>T	XP_006719679.1:n.16336-106C>T
XM_011538770.1:c.16396-106C>T	XP_011537072.1:n.16396-106C>T
XM_011538771.1:c.16393-106C>T	XP_011537073.1:n.16393-106C>T
XM_011538772.1:c.16387-106C>T	XP_011537074.1:n.16387-106C>T
XM_011538773.1:c.16384-106C>T	XP_011537075.1:n.16384-106C>T
XM_011538774.1:c.16375-106C>T	XP_011537076.1:n.16375-106C>T
XM_011538775.1:c.16330-106C>T	XP_011537077.1:n.16330-106C>T
XM_011538776.1:c.16303-106C>T	XP_011537078.1:n.16303-106C>T
XM_005269162.4:c.16339-106C>T	XP_005269219.1:n.16339-106C>T
XM_006719614.4:c.16348-106C>T	XP_006719677.1:n.16348-106C>T
XM_006719616.3:c.16336-106C>T	XP_006719679.1:n.16336-106C>T
XM_011538770.2:c.16396-106C>T	XP_011537072.1:n.16396-106C>T
XM_011538771.2:c.16393-106C>T	XP_011537073.1:n.16393-106C>T
XM_011538772.2:c.16387-106C>T	XP_011537074.1:n.16387-106C>T
XM_011538773.2:c.16384-106C>T	XP_011537075.1:n.16384-106C>T
XM_011538774.2:c.16375-106C>T	XP_011537076.1:n.16375-106C>T
XM_011538776.2:c.16303-106C>T	XP_011537078.1:n.16303-106C>T
XR_001748874.1:n.16516-106C>T
NM_003482.4:c.16339-106C>T MANE Select	NP_003473.3:n.16339-106C>T