Canonical Allele Identifier: CA384675749

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415848C>G (hg19) ; chr12:g.49022065C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022065C>G , CM000674.2:g.49022065C>G	GRCh38
NC_000012.11:g.49415848C>G , CM000674.1:g.49415848C>G	GRCh37
NC_000012.10:g.47702115C>G	NCBI36
NG_027827.1:g.38260G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.469G>C
ENST00000681974.1:n.1171G>C
ENST00000682693.1:n.2133G>C
ENST00000682886.1:n.905G>C
ENST00000683543.2:c.16547G>C	ENSP00000506726.1:p.Arg5516Pro
ENST00000683988.1:c.470G>C	ENSP00000506939.1:p.Arg157Pro
ENST00000684428.1:c.1092G>C	ENSP00000507433.1:n.1092G>C
ENST00000685024.1:c.1653G>C
ENST00000685166.1:c.16508G>C	ENSP00000509386.1:p.Arg5503Pro
ENST00000691932.1:c.500G>C	ENSP00000509037.1:p.Arg167Pro
ENST00000692637.1:c.16496G>C	ENSP00000509666.1:p.Arg5499Pro
ENST00000301067.12:c.16499G>C MANE Select	ENSP00000301067.7:p.Arg5500Pro
ENST00000301067.11:c.16499G>C	ENSP00000301067.7:p.Arg5500Pro
ENST00000526209.1:c.542G>C	ENSP00000435714.1:p.Arg181Pro
NM_003482.3:c.16499G>C	NP_003473.3:p.Arg5500Pro
XM_005269162.3:c.16499G>C	XP_005269219.1:p.Arg5500Pro
XM_006719614.2:c.16508G>C	XP_006719677.1:p.Arg5503Pro
XM_006719616.2:c.16496G>C	XP_006719679.1:p.Arg5499Pro
XM_011538770.1:c.16556G>C	XP_011537072.1:p.Arg5519Pro
XM_011538771.1:c.16553G>C	XP_011537073.1:p.Arg5518Pro
XM_011538772.1:c.16547G>C	XP_011537074.1:p.Arg5516Pro
XM_011538773.1:c.16544G>C	XP_011537075.1:p.Arg5515Pro
XM_011538774.1:c.16535G>C	XP_011537076.1:p.Arg5512Pro
XM_011538775.1:c.16490G>C	XP_011537077.1:p.Arg5497Pro
XM_011538776.1:c.16463G>C	XP_011537078.1:p.Arg5488Pro
XM_005269162.4:c.16499G>C	XP_005269219.1:p.Arg5500Pro
XM_006719614.4:c.16508G>C	XP_006719677.1:p.Arg5503Pro
XM_006719616.3:c.16496G>C	XP_006719679.1:p.Arg5499Pro
XM_011538770.2:c.16556G>C	XP_011537072.1:p.Arg5519Pro
XM_011538771.2:c.16553G>C	XP_011537073.1:p.Arg5518Pro
XM_011538772.2:c.16547G>C	XP_011537074.1:p.Arg5516Pro
XM_011538773.2:c.16544G>C	XP_011537075.1:p.Arg5515Pro
XM_011538774.2:c.16535G>C	XP_011537076.1:p.Arg5512Pro
XM_011538776.2:c.16463G>C	XP_011537078.1:p.Arg5488Pro
XR_001748874.1:n.16676G>C
NM_003482.4:c.16499G>C MANE Select	NP_003473.3:p.Arg5500Pro