Canonical Allele Identifier: CA236646149

Gene: KMT2D

Linked Data

• dbSNP Id: rs574682012
• gnomAD v3: 12-49039298-C-G
• gnomAD v4: 12-49039298-C-G
• MyVariant Identifiers: chr12:g.49433081C>G (hg19) ; chr12:g.49039298C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039298C>G , CM000674.2:g.49039298C>G	GRCh38
NC_000012.11:g.49433081C>G , CM000674.1:g.49433081C>G	GRCh37
NC_000012.10:g.47719348C>G	NCBI36
NG_027827.1:g.21027G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8290G>C	ENSP00000506726.1:p.Gly2764Arg
ENST00000685166.1:c.8299G>C	ENSP00000509386.1:p.Gly2767Arg
ENST00000689060.1:c.2309G>C
ENST00000689143.1:c.1963G>C	ENSP00000509839.1:p.Gly655Arg
ENST00000689944.1:c.2399G>C
ENST00000692637.1:c.8287G>C	ENSP00000509666.1:p.Gly2763Arg
ENST00000301067.12:c.8290G>C MANE Select	ENSP00000301067.7:p.Gly2764Arg
ENST00000301067.11:c.8290G>C	ENSP00000301067.7:p.Gly2764Arg
ENST00000549799.1:n.2G>C
NM_003482.3:c.8290G>C	NP_003473.3:p.Gly2764Arg
XM_005269162.3:c.8290G>C	XP_005269219.1:p.Gly2764Arg
XM_006719614.2:c.8299G>C	XP_006719677.1:p.Gly2767Arg
XM_006719616.2:c.8287G>C	XP_006719679.1:p.Gly2763Arg
XM_011538770.1:c.8299G>C	XP_011537072.1:p.Gly2767Arg
XM_011538771.1:c.8296G>C	XP_011537073.1:p.Gly2766Arg
XM_011538772.1:c.8290G>C	XP_011537074.1:p.Gly2764Arg
XM_011538773.1:c.8287G>C	XP_011537075.1:p.Gly2763Arg
XM_011538774.1:c.8278G>C	XP_011537076.1:p.Gly2760Arg
XM_011538775.1:c.8299G>C	XP_011537077.1:p.Gly2767Arg
XM_011538776.1:c.8206G>C	XP_011537078.1:p.Gly2736Arg
XR_944740.1:n.10619G>C
XM_005269162.4:c.8290G>C	XP_005269219.1:p.Gly2764Arg
XM_006719614.4:c.8299G>C	XP_006719677.1:p.Gly2767Arg
XM_006719616.3:c.8287G>C	XP_006719679.1:p.Gly2763Arg
XM_011538770.2:c.8299G>C	XP_011537072.1:p.Gly2767Arg
XM_011538771.2:c.8296G>C	XP_011537073.1:p.Gly2766Arg
XM_011538772.2:c.8290G>C	XP_011537074.1:p.Gly2764Arg
XM_011538773.2:c.8287G>C	XP_011537075.1:p.Gly2763Arg
XM_011538774.2:c.8278G>C	XP_011537076.1:p.Gly2760Arg
XM_011538776.2:c.8206G>C	XP_011537078.1:p.Gly2736Arg
XR_001748874.1:n.9608G>C
NM_003482.4:c.8290G>C MANE Select	NP_003473.3:p.Gly2764Arg