Canonical Allele Identifier: CA384676948

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416102T>C (hg19) ; chr12:g.49022319T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022319T>C , CM000674.2:g.49022319T>C	GRCh38
NC_000012.11:g.49416102T>C , CM000674.1:g.49416102T>C	GRCh37
NC_000012.10:g.47702369T>C	NCBI36
NG_027827.1:g.38006A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.343A>G
ENST00000681974.1:n.1045A>G
ENST00000682693.1:n.2007A>G
ENST00000682886.1:n.779A>G
ENST00000683543.2:c.16421A>G	ENSP00000506726.1:p.Glu5474Gly
ENST00000683988.1:c.344A>G	ENSP00000506939.1:p.Glu115Gly
ENST00000684428.1:c.966A>G	ENSP00000507433.1:p.Ter322Trp
ENST00000685024.1:c.1527A>G
ENST00000685166.1:c.16382A>G	ENSP00000509386.1:p.Glu5461Gly
ENST00000691932.1:c.374A>G	ENSP00000509037.1:p.Glu125Gly
ENST00000692637.1:c.16370A>G	ENSP00000509666.1:p.Glu5457Gly
ENST00000301067.12:c.16373A>G MANE Select	ENSP00000301067.7:p.Glu5458Gly
ENST00000301067.11:c.16373A>G	ENSP00000301067.7:p.Glu5458Gly
ENST00000526209.1:c.416A>G	ENSP00000435714.1:p.Glu139Gly
NM_003482.3:c.16373A>G	NP_003473.3:p.Glu5458Gly
XM_005269162.3:c.16373A>G	XP_005269219.1:p.Glu5458Gly
XM_006719614.2:c.16382A>G	XP_006719677.1:p.Glu5461Gly
XM_006719616.2:c.16370A>G	XP_006719679.1:p.Glu5457Gly
XM_011538770.1:c.16430A>G	XP_011537072.1:p.Glu5477Gly
XM_011538771.1:c.16427A>G	XP_011537073.1:p.Glu5476Gly
XM_011538772.1:c.16421A>G	XP_011537074.1:p.Glu5474Gly
XM_011538773.1:c.16418A>G	XP_011537075.1:p.Glu5473Gly
XM_011538774.1:c.16409A>G	XP_011537076.1:p.Glu5470Gly
XM_011538775.1:c.16364A>G	XP_011537077.1:p.Glu5455Gly
XM_011538776.1:c.16337A>G	XP_011537078.1:p.Glu5446Gly
XM_005269162.4:c.16373A>G	XP_005269219.1:p.Glu5458Gly
XM_006719614.4:c.16382A>G	XP_006719677.1:p.Glu5461Gly
XM_006719616.3:c.16370A>G	XP_006719679.1:p.Glu5457Gly
XM_011538770.2:c.16430A>G	XP_011537072.1:p.Glu5477Gly
XM_011538771.2:c.16427A>G	XP_011537073.1:p.Glu5476Gly
XM_011538772.2:c.16421A>G	XP_011537074.1:p.Glu5474Gly
XM_011538773.2:c.16418A>G	XP_011537075.1:p.Glu5473Gly
XM_011538774.2:c.16409A>G	XP_011537076.1:p.Glu5470Gly
XM_011538776.2:c.16337A>G	XP_011537078.1:p.Glu5446Gly
XR_001748874.1:n.16550A>G
NM_003482.4:c.16373A>G MANE Select	NP_003473.3:p.Glu5458Gly