Canonical Allele Identifier: CA479520994

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416068A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022285A>C , CM000674.2:g.49022285A>C	GRCh38
NC_000012.11:g.49416068A>C , CM000674.1:g.49416068A>C	GRCh37
NC_000012.10:g.47702335A>C	NCBI36
NG_027827.1:g.38040T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.377T>G
ENST00000681974.1:n.1079T>G
ENST00000682693.1:n.2041T>G
ENST00000682886.1:n.813T>G
ENST00000683543.2:c.16455T>G	ENSP00000506726.1:p.Pro5485=
ENST00000683988.1:c.378T>G	ENSP00000506939.1:p.Pro126=
ENST00000684428.1:c.1000T>G	ENSP00000507433.1:n.1000T>G
ENST00000685024.1:c.1561T>G
ENST00000685166.1:c.16416T>G	ENSP00000509386.1:p.Pro5472=
ENST00000691932.1:c.408T>G	ENSP00000509037.1:p.Pro136=
ENST00000692637.1:c.16404T>G	ENSP00000509666.1:p.Pro5468=
ENST00000301067.12:c.16407T>G MANE Select	ENSP00000301067.7:p.Pro5469=
ENST00000301067.11:c.16407T>G	ENSP00000301067.7:p.Pro5469=
ENST00000526209.1:c.450T>G	ENSP00000435714.1:p.Pro150=
NM_003482.3:c.16407T>G	NP_003473.3:p.Pro5469=
XM_005269162.3:c.16407T>G	XP_005269219.1:p.Pro5469=
XM_006719614.2:c.16416T>G	XP_006719677.1:p.Pro5472=
XM_006719616.2:c.16404T>G	XP_006719679.1:p.Pro5468=
XM_011538770.1:c.16464T>G	XP_011537072.1:p.Pro5488=
XM_011538771.1:c.16461T>G	XP_011537073.1:p.Pro5487=
XM_011538772.1:c.16455T>G	XP_011537074.1:p.Pro5485=
XM_011538773.1:c.16452T>G	XP_011537075.1:p.Pro5484=
XM_011538774.1:c.16443T>G	XP_011537076.1:p.Pro5481=
XM_011538775.1:c.16398T>G	XP_011537077.1:p.Pro5466=
XM_011538776.1:c.16371T>G	XP_011537078.1:p.Pro5457=
XM_005269162.4:c.16407T>G	XP_005269219.1:p.Pro5469=
XM_006719614.4:c.16416T>G	XP_006719677.1:p.Pro5472=
XM_006719616.3:c.16404T>G	XP_006719679.1:p.Pro5468=
XM_011538770.2:c.16464T>G	XP_011537072.1:p.Pro5488=
XM_011538771.2:c.16461T>G	XP_011537073.1:p.Pro5487=
XM_011538772.2:c.16455T>G	XP_011537074.1:p.Pro5485=
XM_011538773.2:c.16452T>G	XP_011537075.1:p.Pro5484=
XM_011538774.2:c.16443T>G	XP_011537076.1:p.Pro5481=
XM_011538776.2:c.16371T>G	XP_011537078.1:p.Pro5457=
XR_001748874.1:n.16584T>G
NM_003482.4:c.16407T>G MANE Select	NP_003473.3:p.Pro5469=