Canonical Allele Identifier: CA6547196

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49041088T>C , CM000674.2:g.49041088T>C	GRCh38
NC_000012.11:g.49434871T>C , CM000674.1:g.49434871T>C	GRCh37
NC_000012.10:g.47721138T>C	NCBI36
NG_027827.1:g.19237A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.6682A>G MANE Select	NP_003473.3:p.Thr2228Ala
ENST00000301067.12:c.6682A>G MANE Select	ENSP00000301067.7:p.Thr2228Ala
NM_003482.3:c.6682A>G	NP_003473.3:p.Thr2228Ala
ENST00000301067.11:c.6682A>G	ENSP00000301067.7:p.Thr2228Ala
ENST00000683543.2:c.6682A>G	ENSP00000506726.1:p.Thr2228Ala
ENST00000685166.1:c.6691A>G	ENSP00000509386.1:p.Thr2231Ala
ENST00000689060.1:c.701A>G
ENST00000689143.1:c.355A>G	ENSP00000509839.1:p.Thr119Ala
ENST00000689944.1:c.791A>G
ENST00000692637.1:c.6679A>G	ENSP00000509666.1:p.Thr2227Ala
XM_005269162.3:c.6682A>G	XP_005269219.1:p.Thr2228Ala
XM_005269162.4:c.6682A>G	XP_005269219.1:p.Thr2228Ala
XM_006719614.2:c.6691A>G	XP_006719677.1:p.Thr2231Ala
XM_006719614.4:c.6691A>G	XP_006719677.1:p.Thr2231Ala
XM_006719616.2:c.6679A>G	XP_006719679.1:p.Thr2227Ala
XM_006719616.3:c.6679A>G	XP_006719679.1:p.Thr2227Ala
XM_011538770.1:c.6691A>G	XP_011537072.1:p.Thr2231Ala
XM_011538770.2:c.6691A>G	XP_011537072.1:p.Thr2231Ala
XM_011538771.1:c.6688A>G	XP_011537073.1:p.Thr2230Ala
XM_011538771.2:c.6688A>G	XP_011537073.1:p.Thr2230Ala
XM_011538772.1:c.6682A>G	XP_011537074.1:p.Thr2228Ala
XM_011538772.2:c.6682A>G	XP_011537074.1:p.Thr2228Ala
XM_011538773.1:c.6679A>G	XP_011537075.1:p.Thr2227Ala
XM_011538773.2:c.6679A>G	XP_011537075.1:p.Thr2227Ala
XM_011538774.1:c.6670A>G	XP_011537076.1:p.Thr2224Ala
XM_011538774.2:c.6670A>G	XP_011537076.1:p.Thr2224Ala
XM_011538775.1:c.6691A>G	XP_011537077.1:p.Thr2231Ala
XM_011538776.1:c.6598A>G	XP_011537078.1:p.Thr2200Ala
XM_011538776.2:c.6598A>G	XP_011537078.1:p.Thr2200Ala
XR_001748874.1:n.8000A>G
XR_944740.1:n.9011A>G