Canonical Allele Identifier: CA479707513

Gene: KMT2D

Linked Data

• dbSNP Id: rs2120411054
• MyVariant Identifiers: chr12:g.49424697G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030914G>C , CM000674.2:g.49030914G>C	GRCh38
NC_000012.11:g.49424697G>C , CM000674.1:g.49424697G>C	GRCh37
NC_000012.10:g.47710964G>C	NCBI36
NG_027827.1:g.29411C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.350C>G
ENST00000683543.2:c.13650C>G	ENSP00000506726.1:p.Ala4550=
ENST00000685166.1:c.13659C>G	ENSP00000509386.1:p.Ala4553=
ENST00000685982.1:c.139-146C>G	ENSP00000508613.1:n.139-146C>G
ENST00000691986.1:c.138+261C>G	ENSP00000509196.1:n.138+261C>G
ENST00000692637.1:c.13647C>G	ENSP00000509666.1:p.Ala4549=
ENST00000692973.1:c.251C>G	ENSP00000508893.1:n.251C>G
ENST00000301067.12:c.13650C>G MANE Select	ENSP00000301067.7:p.Ala4550=
ENST00000301067.11:c.13650C>G	ENSP00000301067.7:p.Ala4550=
ENST00000552391.1:n.350C>G
NM_003482.3:c.13650C>G	NP_003473.3:p.Ala4550=
XM_005269162.3:c.13650C>G	XP_005269219.1:p.Ala4550=
XM_006719614.2:c.13659C>G	XP_006719677.1:p.Ala4553=
XM_006719616.2:c.13647C>G	XP_006719679.1:p.Ala4549=
XM_011538770.1:c.13659C>G	XP_011537072.1:p.Ala4553=
XM_011538771.1:c.13656C>G	XP_011537073.1:p.Ala4552=
XM_011538772.1:c.13650C>G	XP_011537074.1:p.Ala4550=
XM_011538773.1:c.13647C>G	XP_011537075.1:p.Ala4549=
XM_011538774.1:c.13638C>G	XP_011537076.1:p.Ala4546=
XM_011538775.1:c.13659C>G	XP_011537077.1:p.Ala4553=
XM_011538776.1:c.13566C>G	XP_011537078.1:p.Ala4522=
XR_944740.1:n.15979C>G
XM_005269162.4:c.13650C>G	XP_005269219.1:p.Ala4550=
XM_006719614.4:c.13659C>G	XP_006719677.1:p.Ala4553=
XM_006719616.3:c.13647C>G	XP_006719679.1:p.Ala4549=
XM_011538770.2:c.13659C>G	XP_011537072.1:p.Ala4553=
XM_011538771.2:c.13656C>G	XP_011537073.1:p.Ala4552=
XM_011538772.2:c.13650C>G	XP_011537074.1:p.Ala4550=
XM_011538773.2:c.13647C>G	XP_011537075.1:p.Ala4549=
XM_011538774.2:c.13638C>G	XP_011537076.1:p.Ala4546=
XM_011538776.2:c.13566C>G	XP_011537078.1:p.Ala4522=
XR_001748874.1:n.14968C>G
NM_003482.4:c.13650C>G MANE Select	NP_003473.3:p.Ala4550=