Canonical Allele Identifier: CA479521704

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418461A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024678A>G , CM000674.2:g.49024678A>G	GRCh38
NC_000012.11:g.49418461A>G , CM000674.1:g.49418461A>G	GRCh37
NC_000012.10:g.47704728A>G	NCBI36
NG_027827.1:g.35647T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.624T>C
ENST00000683543.2:c.15952T>C	ENSP00000506726.1:p.Leu5318=
ENST00000683863.1:n.1667T>C
ENST00000684428.1:c.487T>C	ENSP00000507433.1:p.Leu163=
ENST00000684755.1:n.487T>C
ENST00000685024.1:c.1106T>C
ENST00000685166.1:c.15961T>C	ENSP00000509386.1:p.Leu5321=
ENST00000688411.1:c.429T>C	ENSP00000510146.1:n.429T>C
ENST00000691932.1:c.31T>C	ENSP00000509037.1:p.Leu11=
ENST00000692637.1:c.15949T>C	ENSP00000509666.1:p.Leu5317=
ENST00000301067.12:c.15952T>C MANE Select	ENSP00000301067.7:p.Leu5318=
ENST00000301067.11:c.15952T>C	ENSP00000301067.7:p.Leu5318=
NM_003482.3:c.15952T>C	NP_003473.3:p.Leu5318=
XM_005269162.3:c.15952T>C	XP_005269219.1:p.Leu5318=
XM_006719614.2:c.15961T>C	XP_006719677.1:p.Leu5321=
XM_006719616.2:c.15949T>C	XP_006719679.1:p.Leu5317=
XM_011538770.1:c.15961T>C	XP_011537072.1:p.Leu5321=
XM_011538771.1:c.15958T>C	XP_011537073.1:p.Leu5320=
XM_011538772.1:c.15952T>C	XP_011537074.1:p.Leu5318=
XM_011538773.1:c.15949T>C	XP_011537075.1:p.Leu5317=
XM_011538774.1:c.15940T>C	XP_011537076.1:p.Leu5314=
XM_011538775.1:c.15895T>C	XP_011537077.1:p.Leu5299=
XM_011538776.1:c.15868T>C	XP_011537078.1:p.Leu5290=
XM_005269162.4:c.15952T>C	XP_005269219.1:p.Leu5318=
XM_006719614.4:c.15961T>C	XP_006719677.1:p.Leu5321=
XM_006719616.3:c.15949T>C	XP_006719679.1:p.Leu5317=
XM_011538770.2:c.15961T>C	XP_011537072.1:p.Leu5321=
XM_011538771.2:c.15958T>C	XP_011537073.1:p.Leu5320=
XM_011538772.2:c.15952T>C	XP_011537074.1:p.Leu5318=
XM_011538773.2:c.15949T>C	XP_011537075.1:p.Leu5317=
XM_011538774.2:c.15940T>C	XP_011537076.1:p.Leu5314=
XM_011538776.2:c.15868T>C	XP_011537078.1:p.Leu5290=
XR_001748874.1:n.16129T>C
NM_003482.4:c.15952T>C MANE Select	NP_003473.3:p.Leu5318=