Canonical Allele Identifier: CA479520865

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49022076-G-T
• MyVariant Identifiers: chr12:g.49415859G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022076G>T , CM000674.2:g.49022076G>T	GRCh38
NC_000012.11:g.49415859G>T , CM000674.1:g.49415859G>T	GRCh37
NC_000012.10:g.47702126G>T	NCBI36
NG_027827.1:g.38249C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.458C>A
ENST00000681974.1:n.1160C>A
ENST00000682693.1:n.2122C>A
ENST00000682886.1:n.894C>A
ENST00000683543.2:c.16536C>A	ENSP00000506726.1:p.Ile5512=
ENST00000683988.1:c.459C>A	ENSP00000506939.1:p.Ile153=
ENST00000684428.1:c.1081C>A	ENSP00000507433.1:n.1081C>A
ENST00000685024.1:c.1642C>A
ENST00000685166.1:c.16497C>A	ENSP00000509386.1:p.Ile5499=
ENST00000691932.1:c.489C>A	ENSP00000509037.1:p.Ile163=
ENST00000692637.1:c.16485C>A	ENSP00000509666.1:p.Ile5495=
ENST00000301067.12:c.16488C>A MANE Select	ENSP00000301067.7:p.Ile5496=
ENST00000301067.11:c.16488C>A	ENSP00000301067.7:p.Ile5496=
ENST00000526209.1:c.531C>A	ENSP00000435714.1:p.Ile177=
NM_003482.3:c.16488C>A	NP_003473.3:p.Ile5496=
XM_005269162.3:c.16488C>A	XP_005269219.1:p.Ile5496=
XM_006719614.2:c.16497C>A	XP_006719677.1:p.Ile5499=
XM_006719616.2:c.16485C>A	XP_006719679.1:p.Ile5495=
XM_011538770.1:c.16545C>A	XP_011537072.1:p.Ile5515=
XM_011538771.1:c.16542C>A	XP_011537073.1:p.Ile5514=
XM_011538772.1:c.16536C>A	XP_011537074.1:p.Ile5512=
XM_011538773.1:c.16533C>A	XP_011537075.1:p.Ile5511=
XM_011538774.1:c.16524C>A	XP_011537076.1:p.Ile5508=
XM_011538775.1:c.16479C>A	XP_011537077.1:p.Ile5493=
XM_011538776.1:c.16452C>A	XP_011537078.1:p.Ile5484=
XM_005269162.4:c.16488C>A	XP_005269219.1:p.Ile5496=
XM_006719614.4:c.16497C>A	XP_006719677.1:p.Ile5499=
XM_006719616.3:c.16485C>A	XP_006719679.1:p.Ile5495=
XM_011538770.2:c.16545C>A	XP_011537072.1:p.Ile5515=
XM_011538771.2:c.16542C>A	XP_011537073.1:p.Ile5514=
XM_011538772.2:c.16536C>A	XP_011537074.1:p.Ile5512=
XM_011538773.2:c.16533C>A	XP_011537075.1:p.Ile5511=
XM_011538774.2:c.16524C>A	XP_011537076.1:p.Ile5508=
XM_011538776.2:c.16452C>A	XP_011537078.1:p.Ile5484=
XR_001748874.1:n.16665C>A
NM_003482.4:c.16488C>A MANE Select	NP_003473.3:p.Ile5496=