Canonical Allele Identifier: CA384682054

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137710726
• MyVariant Identifiers: chr12:g.49418472C>G (hg19) ; chr12:g.49024689C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024689C>G , CM000674.2:g.49024689C>G	GRCh38
NC_000012.11:g.49418472C>G , CM000674.1:g.49418472C>G	GRCh37
NC_000012.10:g.47704739C>G	NCBI36
NG_027827.1:g.35636G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.613G>C
ENST00000683543.2:c.15941G>C	ENSP00000506726.1:p.Cys5314Ser
ENST00000683863.1:n.1656G>C
ENST00000684428.1:c.476G>C	ENSP00000507433.1:p.Cys159Ser
ENST00000684755.1:n.476G>C
ENST00000685024.1:c.1095G>C
ENST00000685166.1:c.15950G>C	ENSP00000509386.1:p.Cys5317Ser
ENST00000688411.1:c.418G>C	ENSP00000510146.1:n.418G>C
ENST00000691932.1:c.20G>C	ENSP00000509037.1:p.Cys7Ser
ENST00000692637.1:c.15938G>C	ENSP00000509666.1:p.Cys5313Ser
ENST00000301067.12:c.15941G>C MANE Select	ENSP00000301067.7:p.Cys5314Ser
ENST00000301067.11:c.15941G>C	ENSP00000301067.7:p.Cys5314Ser
NM_003482.3:c.15941G>C	NP_003473.3:p.Cys5314Ser
XM_005269162.3:c.15941G>C	XP_005269219.1:p.Cys5314Ser
XM_006719614.2:c.15950G>C	XP_006719677.1:p.Cys5317Ser
XM_006719616.2:c.15938G>C	XP_006719679.1:p.Cys5313Ser
XM_011538770.1:c.15950G>C	XP_011537072.1:p.Cys5317Ser
XM_011538771.1:c.15947G>C	XP_011537073.1:p.Cys5316Ser
XM_011538772.1:c.15941G>C	XP_011537074.1:p.Cys5314Ser
XM_011538773.1:c.15938G>C	XP_011537075.1:p.Cys5313Ser
XM_011538774.1:c.15929G>C	XP_011537076.1:p.Cys5310Ser
XM_011538775.1:c.15884G>C	XP_011537077.1:p.Cys5295Ser
XM_011538776.1:c.15857G>C	XP_011537078.1:p.Cys5286Ser
XR_944740.1:n.17129G>C
XM_005269162.4:c.15941G>C	XP_005269219.1:p.Cys5314Ser
XM_006719614.4:c.15950G>C	XP_006719677.1:p.Cys5317Ser
XM_006719616.3:c.15938G>C	XP_006719679.1:p.Cys5313Ser
XM_011538770.2:c.15950G>C	XP_011537072.1:p.Cys5317Ser
XM_011538771.2:c.15947G>C	XP_011537073.1:p.Cys5316Ser
XM_011538772.2:c.15941G>C	XP_011537074.1:p.Cys5314Ser
XM_011538773.2:c.15938G>C	XP_011537075.1:p.Cys5313Ser
XM_011538774.2:c.15929G>C	XP_011537076.1:p.Cys5310Ser
XM_011538776.2:c.15857G>C	XP_011537078.1:p.Cys5286Ser
XR_001748874.1:n.16118G>C
NM_003482.4:c.15941G>C MANE Select	NP_003473.3:p.Cys5314Ser