Canonical Allele Identifier: CA384682994

Gene: KMT2D

Linked Data

• dbSNP Id: rs1390758510
• gnomAD v2: 12-49418654-T-C
• gnomAD v4: 12-49024871-T-C
• MyVariant Identifiers: chr12:g.49418654T>C (hg19) ; chr12:g.49024871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024871T>C , CM000674.2:g.49024871T>C	GRCh38
NC_000012.11:g.49418654T>C , CM000674.1:g.49418654T>C	GRCh37
NC_000012.10:g.47704921T>C	NCBI36
NG_027827.1:g.35454A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.532A>G
ENST00000683543.2:c.15860A>G	ENSP00000506726.1:p.Tyr5287Cys
ENST00000683863.1:n.1575A>G
ENST00000684428.1:c.395A>G	ENSP00000507433.1:p.Tyr132Cys
ENST00000684755.1:n.395A>G
ENST00000685024.1:c.985A>G
ENST00000685166.1:c.15869A>G	ENSP00000509386.1:p.Tyr5290Cys
ENST00000688411.1:c.337A>G	ENSP00000510146.1:n.337A>G
ENST00000691463.1:c.1246A>G	ENSP00000510624.1:n.1246A>G
ENST00000692637.1:c.15857A>G	ENSP00000509666.1:p.Tyr5286Cys
ENST00000301067.12:c.15860A>G MANE Select	ENSP00000301067.7:p.Tyr5287Cys
ENST00000301067.11:c.15860A>G	ENSP00000301067.7:p.Tyr5287Cys
NM_003482.3:c.15860A>G	NP_003473.3:p.Tyr5287Cys
XM_005269162.3:c.15860A>G	XP_005269219.1:p.Tyr5287Cys
XM_006719614.2:c.15869A>G	XP_006719677.1:p.Tyr5290Cys
XM_006719616.2:c.15857A>G	XP_006719679.1:p.Tyr5286Cys
XM_011538770.1:c.15869A>G	XP_011537072.1:p.Tyr5290Cys
XM_011538771.1:c.15866A>G	XP_011537073.1:p.Tyr5289Cys
XM_011538772.1:c.15860A>G	XP_011537074.1:p.Tyr5287Cys
XM_011538773.1:c.15857A>G	XP_011537075.1:p.Tyr5286Cys
XM_011538774.1:c.15848A>G	XP_011537076.1:p.Tyr5283Cys
XM_011538775.1:c.15803A>G	XP_011537077.1:p.Tyr5268Cys
XM_011538776.1:c.15776A>G	XP_011537078.1:p.Tyr5259Cys
XR_944740.1:n.17048A>G
XM_005269162.4:c.15860A>G	XP_005269219.1:p.Tyr5287Cys
XM_006719614.4:c.15869A>G	XP_006719677.1:p.Tyr5290Cys
XM_006719616.3:c.15857A>G	XP_006719679.1:p.Tyr5286Cys
XM_011538770.2:c.15869A>G	XP_011537072.1:p.Tyr5290Cys
XM_011538771.2:c.15866A>G	XP_011537073.1:p.Tyr5289Cys
XM_011538772.2:c.15860A>G	XP_011537074.1:p.Tyr5287Cys
XM_011538773.2:c.15857A>G	XP_011537075.1:p.Tyr5286Cys
XM_011538774.2:c.15848A>G	XP_011537076.1:p.Tyr5283Cys
XM_011538776.2:c.15776A>G	XP_011537078.1:p.Tyr5259Cys
XR_001748874.1:n.16037A>G
NM_003482.4:c.15860A>G MANE Select	NP_003473.3:p.Tyr5287Cys