Canonical Allele Identifier: CA6545969

Gene: KMT2D

Linked Data

• dbSNP Id: rs774877750
• ExAC: 12:49424745 G / A
• gnomAD v2: 12-49424745-G-A
• gnomAD v4: 12-49030962-G-A
• MyVariant Identifiers: chr12:g.49424745G>A (hg19) ; chr12:g.49030962G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030962G>A , CM000674.2:g.49030962G>A	GRCh38
NC_000012.11:g.49424745G>A , CM000674.1:g.49424745G>A	GRCh37
NC_000012.10:g.47711012G>A	NCBI36
NG_027827.1:g.29363C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.302C>T
ENST00000683543.2:c.13602C>T	ENSP00000506726.1:p.Ser4534=
ENST00000685166.1:c.13611C>T	ENSP00000509386.1:p.Ser4537=
ENST00000685982.1:c.139-194C>T	ENSP00000508613.1:n.139-194C>T
ENST00000691986.1:c.138+213C>T	ENSP00000509196.1:n.138+213C>T
ENST00000692637.1:c.13599C>T	ENSP00000509666.1:p.Ser4533=
ENST00000692973.1:c.203C>T	ENSP00000508893.1:n.203C>T
ENST00000301067.12:c.13602C>T MANE Select	ENSP00000301067.7:p.Ser4534=
ENST00000301067.11:c.13602C>T	ENSP00000301067.7:p.Ser4534=
ENST00000552391.1:n.302C>T
NM_003482.3:c.13602C>T	NP_003473.3:p.Ser4534=
XM_005269162.3:c.13602C>T	XP_005269219.1:p.Ser4534=
XM_006719614.2:c.13611C>T	XP_006719677.1:p.Ser4537=
XM_006719616.2:c.13599C>T	XP_006719679.1:p.Ser4533=
XM_011538770.1:c.13611C>T	XP_011537072.1:p.Ser4537=
XM_011538771.1:c.13608C>T	XP_011537073.1:p.Ser4536=
XM_011538772.1:c.13602C>T	XP_011537074.1:p.Ser4534=
XM_011538773.1:c.13599C>T	XP_011537075.1:p.Ser4533=
XM_011538774.1:c.13590C>T	XP_011537076.1:p.Ser4530=
XM_011538775.1:c.13611C>T	XP_011537077.1:p.Ser4537=
XM_011538776.1:c.13518C>T	XP_011537078.1:p.Ser4506=
XR_944740.1:n.15931C>T
XM_005269162.4:c.13602C>T	XP_005269219.1:p.Ser4534=
XM_006719614.4:c.13611C>T	XP_006719677.1:p.Ser4537=
XM_006719616.3:c.13599C>T	XP_006719679.1:p.Ser4533=
XM_011538770.2:c.13611C>T	XP_011537072.1:p.Ser4537=
XM_011538771.2:c.13608C>T	XP_011537073.1:p.Ser4536=
XM_011538772.2:c.13602C>T	XP_011537074.1:p.Ser4534=
XM_011538773.2:c.13599C>T	XP_011537075.1:p.Ser4533=
XM_011538774.2:c.13590C>T	XP_011537076.1:p.Ser4530=
XM_011538776.2:c.13518C>T	XP_011537078.1:p.Ser4506=
XR_001748874.1:n.14920C>T
NM_003482.4:c.13602C>T MANE Select	NP_003473.3:p.Ser4534=