Canonical Allele Identifier: CA384683176

Gene: KMT2D

Linked Data

• dbSNP Id: rs376465820
• MyVariant Identifiers: chr12:g.49418669C>A (hg19) ; chr12:g.49024886C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024886C>A , CM000674.2:g.49024886C>A	GRCh38
NC_000012.11:g.49418669C>A , CM000674.1:g.49418669C>A	GRCh37
NC_000012.10:g.47704936C>A	NCBI36
NG_027827.1:g.35439G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.517G>T
ENST00000683543.2:c.15845G>T	ENSP00000506726.1:p.Arg5282Leu
ENST00000683863.1:n.1560G>T
ENST00000684428.1:c.380G>T	ENSP00000507433.1:p.Arg127Leu
ENST00000684755.1:n.380G>T
ENST00000685024.1:c.970G>T
ENST00000685166.1:c.15854G>T	ENSP00000509386.1:p.Arg5285Leu
ENST00000688411.1:c.322G>T	ENSP00000510146.1:n.322G>T
ENST00000691463.1:c.1231G>T	ENSP00000510624.1:n.1231G>T
ENST00000692637.1:c.15842G>T	ENSP00000509666.1:p.Arg5281Leu
ENST00000301067.12:c.15845G>T MANE Select	ENSP00000301067.7:p.Arg5282Leu
ENST00000301067.11:c.15845G>T	ENSP00000301067.7:p.Arg5282Leu
NM_003482.3:c.15845G>T	NP_003473.3:p.Arg5282Leu
XM_005269162.3:c.15845G>T	XP_005269219.1:p.Arg5282Leu
XM_006719614.2:c.15854G>T	XP_006719677.1:p.Arg5285Leu
XM_006719616.2:c.15842G>T	XP_006719679.1:p.Arg5281Leu
XM_011538770.1:c.15854G>T	XP_011537072.1:p.Arg5285Leu
XM_011538771.1:c.15851G>T	XP_011537073.1:p.Arg5284Leu
XM_011538772.1:c.15845G>T	XP_011537074.1:p.Arg5282Leu
XM_011538773.1:c.15842G>T	XP_011537075.1:p.Arg5281Leu
XM_011538774.1:c.15833G>T	XP_011537076.1:p.Arg5278Leu
XM_011538775.1:c.15788G>T	XP_011537077.1:p.Arg5263Leu
XM_011538776.1:c.15761G>T	XP_011537078.1:p.Arg5254Leu
XR_944740.1:n.17033G>T
XM_005269162.4:c.15845G>T	XP_005269219.1:p.Arg5282Leu
XM_006719614.4:c.15854G>T	XP_006719677.1:p.Arg5285Leu
XM_006719616.3:c.15842G>T	XP_006719679.1:p.Arg5281Leu
XM_011538770.2:c.15854G>T	XP_011537072.1:p.Arg5285Leu
XM_011538771.2:c.15851G>T	XP_011537073.1:p.Arg5284Leu
XM_011538772.2:c.15845G>T	XP_011537074.1:p.Arg5282Leu
XM_011538773.2:c.15842G>T	XP_011537075.1:p.Arg5281Leu
XM_011538774.2:c.15833G>T	XP_011537076.1:p.Arg5278Leu
XM_011538776.2:c.15761G>T	XP_011537078.1:p.Arg5254Leu
XR_001748874.1:n.16022G>T
NM_003482.4:c.15845G>T MANE Select	NP_003473.3:p.Arg5282Leu