Canonical Allele Identifier: CA384747726

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49040344C>A , CM000674.2:g.49040344C>A	GRCh38
NC_000012.11:g.49434127C>A , CM000674.1:g.49434127C>A	GRCh37
NC_000012.10:g.47720394C>A	NCBI36
NG_027827.1:g.19981G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.7426G>T MANE Select	NP_003473.3:p.Glu2476Ter
ENST00000301067.12:c.7426G>T MANE Select	ENSP00000301067.7:p.Glu2476Ter
NM_003482.3:c.7426G>T	NP_003473.3:p.Glu2476Ter
ENST00000301067.11:c.7426G>T	ENSP00000301067.7:p.Glu2476Ter
ENST00000683543.2:c.7426G>T	ENSP00000506726.1:p.Glu2476Ter
ENST00000685166.1:c.7435G>T	ENSP00000509386.1:p.Glu2479Ter
ENST00000689060.1:c.1445G>T
ENST00000689143.1:c.1099G>T	ENSP00000509839.1:p.Glu367Ter
ENST00000689944.1:c.1535G>T
ENST00000692637.1:c.7423G>T	ENSP00000509666.1:p.Glu2475Ter
XM_005269162.3:c.7426G>T	XP_005269219.1:p.Glu2476Ter
XM_005269162.4:c.7426G>T	XP_005269219.1:p.Glu2476Ter
XM_006719614.2:c.7435G>T	XP_006719677.1:p.Glu2479Ter
XM_006719614.4:c.7435G>T	XP_006719677.1:p.Glu2479Ter
XM_006719616.2:c.7423G>T	XP_006719679.1:p.Glu2475Ter
XM_006719616.3:c.7423G>T	XP_006719679.1:p.Glu2475Ter
XM_011538770.1:c.7435G>T	XP_011537072.1:p.Glu2479Ter
XM_011538770.2:c.7435G>T	XP_011537072.1:p.Glu2479Ter
XM_011538771.1:c.7432G>T	XP_011537073.1:p.Glu2478Ter
XM_011538771.2:c.7432G>T	XP_011537073.1:p.Glu2478Ter
XM_011538772.1:c.7426G>T	XP_011537074.1:p.Glu2476Ter
XM_011538772.2:c.7426G>T	XP_011537074.1:p.Glu2476Ter
XM_011538773.1:c.7423G>T	XP_011537075.1:p.Glu2475Ter
XM_011538773.2:c.7423G>T	XP_011537075.1:p.Glu2475Ter
XM_011538774.1:c.7414G>T	XP_011537076.1:p.Glu2472Ter
XM_011538774.2:c.7414G>T	XP_011537076.1:p.Glu2472Ter
XM_011538775.1:c.7435G>T	XP_011537077.1:p.Glu2479Ter
XM_011538776.1:c.7342G>T	XP_011537078.1:p.Glu2448Ter
XM_011538776.2:c.7342G>T	XP_011537078.1:p.Glu2448Ter
XR_001748874.1:n.8744G>T
XR_944740.1:n.9755G>T