Canonical Allele Identifier: CA479521035

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137705152
• MyVariant Identifiers: chr12:g.49416128G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022345G>T , CM000674.2:g.49022345G>T	GRCh38
NC_000012.11:g.49416128G>T , CM000674.1:g.49416128G>T	GRCh37
NC_000012.10:g.47702395G>T	NCBI36
NG_027827.1:g.37980C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.317C>A
ENST00000681974.1:n.1019C>A
ENST00000682693.1:n.1981C>A
ENST00000682886.1:n.753C>A
ENST00000683543.2:c.16395C>A	ENSP00000506726.1:p.Gly5465=
ENST00000683988.1:c.318C>A	ENSP00000506939.1:p.Gly106=
ENST00000684428.1:c.940C>A	ENSP00000507433.1:p.His314Asn
ENST00000685024.1:c.1501C>A
ENST00000685166.1:c.16356C>A	ENSP00000509386.1:p.Gly5452=
ENST00000691932.1:c.348C>A	ENSP00000509037.1:p.Gly116=
ENST00000692637.1:c.16344C>A	ENSP00000509666.1:p.Gly5448=
ENST00000301067.12:c.16347C>A MANE Select	ENSP00000301067.7:p.Gly5449=
ENST00000301067.11:c.16347C>A	ENSP00000301067.7:p.Gly5449=
ENST00000526209.1:c.390C>A	ENSP00000435714.1:p.Gly130=
NM_003482.3:c.16347C>A	NP_003473.3:p.Gly5449=
XM_005269162.3:c.16347C>A	XP_005269219.1:p.Gly5449=
XM_006719614.2:c.16356C>A	XP_006719677.1:p.Gly5452=
XM_006719616.2:c.16344C>A	XP_006719679.1:p.Gly5448=
XM_011538770.1:c.16404C>A	XP_011537072.1:p.Gly5468=
XM_011538771.1:c.16401C>A	XP_011537073.1:p.Gly5467=
XM_011538772.1:c.16395C>A	XP_011537074.1:p.Gly5465=
XM_011538773.1:c.16392C>A	XP_011537075.1:p.Gly5464=
XM_011538774.1:c.16383C>A	XP_011537076.1:p.Gly5461=
XM_011538775.1:c.16338C>A	XP_011537077.1:p.Gly5446=
XM_011538776.1:c.16311C>A	XP_011537078.1:p.Gly5437=
XM_005269162.4:c.16347C>A	XP_005269219.1:p.Gly5449=
XM_006719614.4:c.16356C>A	XP_006719677.1:p.Gly5452=
XM_006719616.3:c.16344C>A	XP_006719679.1:p.Gly5448=
XM_011538770.2:c.16404C>A	XP_011537072.1:p.Gly5468=
XM_011538771.2:c.16401C>A	XP_011537073.1:p.Gly5467=
XM_011538772.2:c.16395C>A	XP_011537074.1:p.Gly5465=
XM_011538773.2:c.16392C>A	XP_011537075.1:p.Gly5464=
XM_011538774.2:c.16383C>A	XP_011537076.1:p.Gly5461=
XM_011538776.2:c.16311C>A	XP_011537078.1:p.Gly5437=
XR_001748874.1:n.16524C>A
NM_003482.4:c.16347C>A MANE Select	NP_003473.3:p.Gly5449=