Canonical Allele Identifier: CA479710932

Gene: KMT2D

Linked Data

• dbSNP Id: rs1166863830
• MyVariant Identifiers: chr12:g.49433275G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039492G>C , CM000674.2:g.49039492G>C	GRCh38
NC_000012.11:g.49433275G>C , CM000674.1:g.49433275G>C	GRCh37
NC_000012.10:g.47719542G>C	NCBI36
NG_027827.1:g.20833C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8172C>G	ENSP00000506726.1:p.Pro2724=
ENST00000685166.1:c.8181C>G	ENSP00000509386.1:p.Pro2727=
ENST00000689060.1:c.2191C>G
ENST00000689143.1:c.1845C>G	ENSP00000509839.1:p.Pro615=
ENST00000689944.1:c.2281C>G
ENST00000692637.1:c.8169C>G	ENSP00000509666.1:p.Pro2723=
ENST00000301067.12:c.8172C>G MANE Select	ENSP00000301067.7:p.Pro2724=
ENST00000301067.11:c.8172C>G	ENSP00000301067.7:p.Pro2724=
NM_003482.3:c.8172C>G	NP_003473.3:p.Pro2724=
XM_005269162.3:c.8172C>G	XP_005269219.1:p.Pro2724=
XM_006719614.2:c.8181C>G	XP_006719677.1:p.Pro2727=
XM_006719616.2:c.8169C>G	XP_006719679.1:p.Pro2723=
XM_011538770.1:c.8181C>G	XP_011537072.1:p.Pro2727=
XM_011538771.1:c.8178C>G	XP_011537073.1:p.Pro2726=
XM_011538772.1:c.8172C>G	XP_011537074.1:p.Pro2724=
XM_011538773.1:c.8169C>G	XP_011537075.1:p.Pro2723=
XM_011538774.1:c.8160C>G	XP_011537076.1:p.Pro2720=
XM_011538775.1:c.8181C>G	XP_011537077.1:p.Pro2727=
XM_011538776.1:c.8088C>G	XP_011537078.1:p.Pro2696=
XR_944740.1:n.10501C>G
XM_005269162.4:c.8172C>G	XP_005269219.1:p.Pro2724=
XM_006719614.4:c.8181C>G	XP_006719677.1:p.Pro2727=
XM_006719616.3:c.8169C>G	XP_006719679.1:p.Pro2723=
XM_011538770.2:c.8181C>G	XP_011537072.1:p.Pro2727=
XM_011538771.2:c.8178C>G	XP_011537073.1:p.Pro2726=
XM_011538772.2:c.8172C>G	XP_011537074.1:p.Pro2724=
XM_011538773.2:c.8169C>G	XP_011537075.1:p.Pro2723=
XM_011538774.2:c.8160C>G	XP_011537076.1:p.Pro2720=
XM_011538776.2:c.8088C>G	XP_011537078.1:p.Pro2696=
XR_001748874.1:n.9490C>G
NM_003482.4:c.8172C>G MANE Select	NP_003473.3:p.Pro2724=