Canonical Allele Identifier: CA6547048

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49040254G>A , CM000674.2:g.49040254G>A	GRCh38
NC_000012.11:g.49434037G>A , CM000674.1:g.49434037G>A	GRCh37
NC_000012.10:g.47720304G>A	NCBI36
NG_027827.1:g.20071C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.7516C>T MANE Select	NP_003473.3:p.Leu2506Phe
ENST00000301067.12:c.7516C>T MANE Select	ENSP00000301067.7:p.Leu2506Phe
NM_003482.3:c.7516C>T	NP_003473.3:p.Leu2506Phe
ENST00000301067.11:c.7516C>T	ENSP00000301067.7:p.Leu2506Phe
ENST00000683543.2:c.7516C>T	ENSP00000506726.1:p.Leu2506Phe
ENST00000685166.1:c.7525C>T	ENSP00000509386.1:p.Leu2509Phe
ENST00000689060.1:c.1535C>T
ENST00000689143.1:c.1189C>T	ENSP00000509839.1:p.Leu397Phe
ENST00000689944.1:c.1625C>T
ENST00000692637.1:c.7513C>T	ENSP00000509666.1:p.Leu2505Phe
XM_005269162.3:c.7516C>T	XP_005269219.1:p.Leu2506Phe
XM_005269162.4:c.7516C>T	XP_005269219.1:p.Leu2506Phe
XM_006719614.2:c.7525C>T	XP_006719677.1:p.Leu2509Phe
XM_006719614.4:c.7525C>T	XP_006719677.1:p.Leu2509Phe
XM_006719616.2:c.7513C>T	XP_006719679.1:p.Leu2505Phe
XM_006719616.3:c.7513C>T	XP_006719679.1:p.Leu2505Phe
XM_011538770.1:c.7525C>T	XP_011537072.1:p.Leu2509Phe
XM_011538770.2:c.7525C>T	XP_011537072.1:p.Leu2509Phe
XM_011538771.1:c.7522C>T	XP_011537073.1:p.Leu2508Phe
XM_011538771.2:c.7522C>T	XP_011537073.1:p.Leu2508Phe
XM_011538772.1:c.7516C>T	XP_011537074.1:p.Leu2506Phe
XM_011538772.2:c.7516C>T	XP_011537074.1:p.Leu2506Phe
XM_011538773.1:c.7513C>T	XP_011537075.1:p.Leu2505Phe
XM_011538773.2:c.7513C>T	XP_011537075.1:p.Leu2505Phe
XM_011538774.1:c.7504C>T	XP_011537076.1:p.Leu2502Phe
XM_011538774.2:c.7504C>T	XP_011537076.1:p.Leu2502Phe
XM_011538775.1:c.7525C>T	XP_011537077.1:p.Leu2509Phe
XM_011538776.1:c.7432C>T	XP_011537078.1:p.Leu2478Phe
XM_011538776.2:c.7432C>T	XP_011537078.1:p.Leu2478Phe
XR_001748874.1:n.8834C>T
XR_944740.1:n.9845C>T