Canonical Allele Identifier: CA479520856

Gene: KMT2D

Linked Data

• dbSNP Id: rs1245654307
• gnomAD v2: 12-49415850-G-A
• MyVariant Identifiers: chr12:g.49415850G>A (hg19) ; chr12:g.49022067G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022067G>A , CM000674.2:g.49022067G>A	GRCh38
NC_000012.11:g.49415850G>A , CM000674.1:g.49415850G>A	GRCh37
NC_000012.10:g.47702117G>A	NCBI36
NG_027827.1:g.38258C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526209.2:c.467C>T
ENST00000681974.1:n.1169C>T
ENST00000682693.1:n.2131C>T
ENST00000682886.1:n.903C>T
ENST00000683543.2:c.16545C>T	ENSP00000506726.1:p.Ser5515=
ENST00000683988.1:c.468C>T	ENSP00000506939.1:p.Ser156=
ENST00000684428.1:c.1090C>T	ENSP00000507433.1:n.1090C>T
ENST00000685024.1:c.1651C>T
ENST00000685166.1:c.16506C>T	ENSP00000509386.1:p.Ser5502=
ENST00000691932.1:c.498C>T	ENSP00000509037.1:p.Ser166=
ENST00000692637.1:c.16494C>T	ENSP00000509666.1:p.Ser5498=
ENST00000301067.12:c.16497C>T MANE Select	ENSP00000301067.7:p.Ser5499=
ENST00000301067.11:c.16497C>T	ENSP00000301067.7:p.Ser5499=
ENST00000526209.1:c.540C>T	ENSP00000435714.1:p.Ser180=
NM_003482.3:c.16497C>T	NP_003473.3:p.Ser5499=
XM_005269162.3:c.16497C>T	XP_005269219.1:p.Ser5499=
XM_006719614.2:c.16506C>T	XP_006719677.1:p.Ser5502=
XM_006719616.2:c.16494C>T	XP_006719679.1:p.Ser5498=
XM_011538770.1:c.16554C>T	XP_011537072.1:p.Ser5518=
XM_011538771.1:c.16551C>T	XP_011537073.1:p.Ser5517=
XM_011538772.1:c.16545C>T	XP_011537074.1:p.Ser5515=
XM_011538773.1:c.16542C>T	XP_011537075.1:p.Ser5514=
XM_011538774.1:c.16533C>T	XP_011537076.1:p.Ser5511=
XM_011538775.1:c.16488C>T	XP_011537077.1:p.Ser5496=
XM_011538776.1:c.16461C>T	XP_011537078.1:p.Ser5487=
XM_005269162.4:c.16497C>T	XP_005269219.1:p.Ser5499=
XM_006719614.4:c.16506C>T	XP_006719677.1:p.Ser5502=
XM_006719616.3:c.16494C>T	XP_006719679.1:p.Ser5498=
XM_011538770.2:c.16554C>T	XP_011537072.1:p.Ser5518=
XM_011538771.2:c.16551C>T	XP_011537073.1:p.Ser5517=
XM_011538772.2:c.16545C>T	XP_011537074.1:p.Ser5515=
XM_011538773.2:c.16542C>T	XP_011537075.1:p.Ser5514=
XM_011538774.2:c.16533C>T	XP_011537076.1:p.Ser5511=
XM_011538776.2:c.16461C>T	XP_011537078.1:p.Ser5487=
XR_001748874.1:n.16674C>T
NM_003482.4:c.16497C>T MANE Select	NP_003473.3:p.Ser5499=