Canonical Allele Identifier: CA384682785

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418633A>G (hg19) ; chr12:g.49024850A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024850A>G , CM000674.2:g.49024850A>G	GRCh38
NC_000012.11:g.49418633A>G , CM000674.1:g.49418633A>G	GRCh37
NC_000012.10:g.47704900A>G	NCBI36
NG_027827.1:g.35475T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.553T>C
ENST00000683543.2:c.15881T>C	ENSP00000506726.1:p.Phe5294Ser
ENST00000683863.1:n.1596T>C
ENST00000684428.1:c.416T>C	ENSP00000507433.1:p.Phe139Ser
ENST00000684755.1:n.416T>C
ENST00000685024.1:c.1006T>C
ENST00000685166.1:c.15890T>C	ENSP00000509386.1:p.Phe5297Ser
ENST00000688411.1:c.358T>C	ENSP00000510146.1:n.358T>C
ENST00000691463.1:c.1267T>C	ENSP00000510624.1:n.1267T>C
ENST00000692637.1:c.15878T>C	ENSP00000509666.1:p.Phe5293Ser
ENST00000301067.12:c.15881T>C MANE Select	ENSP00000301067.7:p.Phe5294Ser
ENST00000301067.11:c.15881T>C	ENSP00000301067.7:p.Phe5294Ser
NM_003482.3:c.15881T>C	NP_003473.3:p.Phe5294Ser
XM_005269162.3:c.15881T>C	XP_005269219.1:p.Phe5294Ser
XM_006719614.2:c.15890T>C	XP_006719677.1:p.Phe5297Ser
XM_006719616.2:c.15878T>C	XP_006719679.1:p.Phe5293Ser
XM_011538770.1:c.15890T>C	XP_011537072.1:p.Phe5297Ser
XM_011538771.1:c.15887T>C	XP_011537073.1:p.Phe5296Ser
XM_011538772.1:c.15881T>C	XP_011537074.1:p.Phe5294Ser
XM_011538773.1:c.15878T>C	XP_011537075.1:p.Phe5293Ser
XM_011538774.1:c.15869T>C	XP_011537076.1:p.Phe5290Ser
XM_011538775.1:c.15824T>C	XP_011537077.1:p.Phe5275Ser
XM_011538776.1:c.15797T>C	XP_011537078.1:p.Phe5266Ser
XR_944740.1:n.17069T>C
XM_005269162.4:c.15881T>C	XP_005269219.1:p.Phe5294Ser
XM_006719614.4:c.15890T>C	XP_006719677.1:p.Phe5297Ser
XM_006719616.3:c.15878T>C	XP_006719679.1:p.Phe5293Ser
XM_011538770.2:c.15890T>C	XP_011537072.1:p.Phe5297Ser
XM_011538771.2:c.15887T>C	XP_011537073.1:p.Phe5296Ser
XM_011538772.2:c.15881T>C	XP_011537074.1:p.Phe5294Ser
XM_011538773.2:c.15878T>C	XP_011537075.1:p.Phe5293Ser
XM_011538774.2:c.15869T>C	XP_011537076.1:p.Phe5290Ser
XM_011538776.2:c.15797T>C	XP_011537078.1:p.Phe5266Ser
XR_001748874.1:n.16058T>C
NM_003482.4:c.15881T>C MANE Select	NP_003473.3:p.Phe5294Ser