Canonical Allele Identifier: CA479521665

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49024619-G-C
• MyVariant Identifiers: chr12:g.49418402G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024619G>C , CM000674.2:g.49024619G>C	GRCh38
NC_000012.11:g.49418402G>C , CM000674.1:g.49418402G>C	GRCh37
NC_000012.10:g.47704669G>C	NCBI36
NG_027827.1:g.35706C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.683C>G
ENST00000683543.2:c.16011C>G	ENSP00000506726.1:p.Gly5337=
ENST00000683863.1:n.1726C>G
ENST00000684428.1:c.546C>G	ENSP00000507433.1:p.Gly182=
ENST00000684755.1:n.546C>G
ENST00000685024.1:c.1165C>G
ENST00000685166.1:c.16020C>G	ENSP00000509386.1:p.Gly5340=
ENST00000688411.1:c.488C>G	ENSP00000510146.1:n.488C>G
ENST00000691932.1:c.90C>G	ENSP00000509037.1:p.Gly30=
ENST00000692637.1:c.16008C>G	ENSP00000509666.1:p.Gly5336=
ENST00000301067.12:c.16011C>G MANE Select	ENSP00000301067.7:p.Gly5337=
ENST00000301067.11:c.16011C>G	ENSP00000301067.7:p.Gly5337=
ENST00000526209.1:c.6C>G	ENSP00000435714.1:p.Gly2=
NM_003482.3:c.16011C>G	NP_003473.3:p.Gly5337=
XM_005269162.3:c.16011C>G	XP_005269219.1:p.Gly5337=
XM_006719614.2:c.16020C>G	XP_006719677.1:p.Gly5340=
XM_006719616.2:c.16008C>G	XP_006719679.1:p.Gly5336=
XM_011538770.1:c.16020C>G	XP_011537072.1:p.Gly5340=
XM_011538771.1:c.16017C>G	XP_011537073.1:p.Gly5339=
XM_011538772.1:c.16011C>G	XP_011537074.1:p.Gly5337=
XM_011538773.1:c.16008C>G	XP_011537075.1:p.Gly5336=
XM_011538774.1:c.15999C>G	XP_011537076.1:p.Gly5333=
XM_011538775.1:c.15954C>G	XP_011537077.1:p.Gly5318=
XM_011538776.1:c.15927C>G	XP_011537078.1:p.Gly5309=
XM_005269162.4:c.16011C>G	XP_005269219.1:p.Gly5337=
XM_006719614.4:c.16020C>G	XP_006719677.1:p.Gly5340=
XM_006719616.3:c.16008C>G	XP_006719679.1:p.Gly5336=
XM_011538770.2:c.16020C>G	XP_011537072.1:p.Gly5340=
XM_011538771.2:c.16017C>G	XP_011537073.1:p.Gly5339=
XM_011538772.2:c.16011C>G	XP_011537074.1:p.Gly5337=
XM_011538773.2:c.16008C>G	XP_011537075.1:p.Gly5336=
XM_011538774.2:c.15999C>G	XP_011537076.1:p.Gly5333=
XM_011538776.2:c.15927C>G	XP_011537078.1:p.Gly5309=
XR_001748874.1:n.16188C>G
NM_003482.4:c.16011C>G MANE Select	NP_003473.3:p.Gly5337=