Canonical Allele Identifier: CA384675991

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137703760
• gnomAD v4: 12-49022098-T-C
• MyVariant Identifiers: chr12:g.49415881T>C (hg19) ; chr12:g.49022098T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022098T>C , CM000674.2:g.49022098T>C	GRCh38
NC_000012.11:g.49415881T>C , CM000674.1:g.49415881T>C	GRCh37
NC_000012.10:g.47702148T>C	NCBI36
NG_027827.1:g.38227A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.436A>G
ENST00000681974.1:n.1138A>G
ENST00000682693.1:n.2100A>G
ENST00000682886.1:n.872A>G
ENST00000683543.2:c.16514A>G	ENSP00000506726.1:p.Asp5505Gly
ENST00000683988.1:c.437A>G	ENSP00000506939.1:p.Asp146Gly
ENST00000684428.1:c.1059A>G	ENSP00000507433.1:n.1059A>G
ENST00000685024.1:c.1620A>G
ENST00000685166.1:c.16475A>G	ENSP00000509386.1:p.Asp5492Gly
ENST00000691932.1:c.467A>G	ENSP00000509037.1:p.Asp156Gly
ENST00000692637.1:c.16463A>G	ENSP00000509666.1:p.Asp5488Gly
ENST00000301067.12:c.16466A>G MANE Select	ENSP00000301067.7:p.Asp5489Gly
ENST00000301067.11:c.16466A>G	ENSP00000301067.7:p.Asp5489Gly
ENST00000526209.1:c.509A>G	ENSP00000435714.1:p.Asp170Gly
NM_003482.3:c.16466A>G	NP_003473.3:p.Asp5489Gly
XM_005269162.3:c.16466A>G	XP_005269219.1:p.Asp5489Gly
XM_006719614.2:c.16475A>G	XP_006719677.1:p.Asp5492Gly
XM_006719616.2:c.16463A>G	XP_006719679.1:p.Asp5488Gly
XM_011538770.1:c.16523A>G	XP_011537072.1:p.Asp5508Gly
XM_011538771.1:c.16520A>G	XP_011537073.1:p.Asp5507Gly
XM_011538772.1:c.16514A>G	XP_011537074.1:p.Asp5505Gly
XM_011538773.1:c.16511A>G	XP_011537075.1:p.Asp5504Gly
XM_011538774.1:c.16502A>G	XP_011537076.1:p.Asp5501Gly
XM_011538775.1:c.16457A>G	XP_011537077.1:p.Asp5486Gly
XM_011538776.1:c.16430A>G	XP_011537078.1:p.Asp5477Gly
XM_005269162.4:c.16466A>G	XP_005269219.1:p.Asp5489Gly
XM_006719614.4:c.16475A>G	XP_006719677.1:p.Asp5492Gly
XM_006719616.3:c.16463A>G	XP_006719679.1:p.Asp5488Gly
XM_011538770.2:c.16523A>G	XP_011537072.1:p.Asp5508Gly
XM_011538771.2:c.16520A>G	XP_011537073.1:p.Asp5507Gly
XM_011538772.2:c.16514A>G	XP_011537074.1:p.Asp5505Gly
XM_011538773.2:c.16511A>G	XP_011537075.1:p.Asp5504Gly
XM_011538774.2:c.16502A>G	XP_011537076.1:p.Asp5501Gly
XM_011538776.2:c.16430A>G	XP_011537078.1:p.Asp5477Gly
XR_001748874.1:n.16643A>G
NM_003482.4:c.16466A>G MANE Select	NP_003473.3:p.Asp5489Gly