Canonical Allele Identifier: CA384681349

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137710578
• MyVariant Identifiers: chr12:g.49418403C>T (hg19) ; chr12:g.49024620C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024620C>T , CM000674.2:g.49024620C>T	GRCh38
NC_000012.11:g.49418403C>T , CM000674.1:g.49418403C>T	GRCh37
NC_000012.10:g.47704670C>T	NCBI36
NG_027827.1:g.35705G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.682G>A
ENST00000683543.2:c.16010G>A	ENSP00000506726.1:p.Gly5337Asp
ENST00000683863.1:n.1725G>A
ENST00000684428.1:c.545G>A	ENSP00000507433.1:p.Gly182Asp
ENST00000684755.1:n.545G>A
ENST00000685024.1:c.1164G>A
ENST00000685166.1:c.16019G>A	ENSP00000509386.1:p.Gly5340Asp
ENST00000688411.1:c.487G>A	ENSP00000510146.1:n.487G>A
ENST00000691932.1:c.89G>A	ENSP00000509037.1:p.Gly30Asp
ENST00000692637.1:c.16007G>A	ENSP00000509666.1:p.Gly5336Asp
ENST00000301067.12:c.16010G>A MANE Select	ENSP00000301067.7:p.Gly5337Asp
ENST00000301067.11:c.16010G>A	ENSP00000301067.7:p.Gly5337Asp
ENST00000526209.1:c.5G>A	ENSP00000435714.1:p.Gly2Asp
NM_003482.3:c.16010G>A	NP_003473.3:p.Gly5337Asp
XM_005269162.3:c.16010G>A	XP_005269219.1:p.Gly5337Asp
XM_006719614.2:c.16019G>A	XP_006719677.1:p.Gly5340Asp
XM_006719616.2:c.16007G>A	XP_006719679.1:p.Gly5336Asp
XM_011538770.1:c.16019G>A	XP_011537072.1:p.Gly5340Asp
XM_011538771.1:c.16016G>A	XP_011537073.1:p.Gly5339Asp
XM_011538772.1:c.16010G>A	XP_011537074.1:p.Gly5337Asp
XM_011538773.1:c.16007G>A	XP_011537075.1:p.Gly5336Asp
XM_011538774.1:c.15998G>A	XP_011537076.1:p.Gly5333Asp
XM_011538775.1:c.15953G>A	XP_011537077.1:p.Gly5318Asp
XM_011538776.1:c.15926G>A	XP_011537078.1:p.Gly5309Asp
XM_005269162.4:c.16010G>A	XP_005269219.1:p.Gly5337Asp
XM_006719614.4:c.16019G>A	XP_006719677.1:p.Gly5340Asp
XM_006719616.3:c.16007G>A	XP_006719679.1:p.Gly5336Asp
XM_011538770.2:c.16019G>A	XP_011537072.1:p.Gly5340Asp
XM_011538771.2:c.16016G>A	XP_011537073.1:p.Gly5339Asp
XM_011538772.2:c.16010G>A	XP_011537074.1:p.Gly5337Asp
XM_011538773.2:c.16007G>A	XP_011537075.1:p.Gly5336Asp
XM_011538774.2:c.15998G>A	XP_011537076.1:p.Gly5333Asp
XM_011538776.2:c.15926G>A	XP_011537078.1:p.Gly5309Asp
XR_001748874.1:n.16187G>A
NM_003482.4:c.16010G>A MANE Select	NP_003473.3:p.Gly5337Asp