Canonical Allele Identifier: CA479520933

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137704097
• MyVariant Identifiers: chr12:g.49415931G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022148G>A , CM000674.2:g.49022148G>A	GRCh38
NC_000012.11:g.49415931G>A , CM000674.1:g.49415931G>A	GRCh37
NC_000012.10:g.47702198G>A	NCBI36
NG_027827.1:g.38177C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.386C>T
ENST00000681974.1:n.1088C>T
ENST00000682693.1:n.2050C>T
ENST00000682886.1:n.822C>T
ENST00000683543.2:c.16464C>T	ENSP00000506726.1:p.Tyr5488=
ENST00000683988.1:c.387C>T	ENSP00000506939.1:p.Tyr129=
ENST00000684428.1:c.1009C>T	ENSP00000507433.1:n.1009C>T
ENST00000685024.1:c.1570C>T
ENST00000685166.1:c.16425C>T	ENSP00000509386.1:p.Tyr5475=
ENST00000691932.1:c.417C>T	ENSP00000509037.1:p.Tyr139=
ENST00000692637.1:c.16413C>T	ENSP00000509666.1:p.Tyr5471=
ENST00000301067.12:c.16416C>T MANE Select	ENSP00000301067.7:p.Tyr5472=
ENST00000301067.11:c.16416C>T	ENSP00000301067.7:p.Tyr5472=
ENST00000526209.1:c.459C>T	ENSP00000435714.1:p.Tyr153=
NM_003482.3:c.16416C>T	NP_003473.3:p.Tyr5472=
XM_005269162.3:c.16416C>T	XP_005269219.1:p.Tyr5472=
XM_006719614.2:c.16425C>T	XP_006719677.1:p.Tyr5475=
XM_006719616.2:c.16413C>T	XP_006719679.1:p.Tyr5471=
XM_011538770.1:c.16473C>T	XP_011537072.1:p.Tyr5491=
XM_011538771.1:c.16470C>T	XP_011537073.1:p.Tyr5490=
XM_011538772.1:c.16464C>T	XP_011537074.1:p.Tyr5488=
XM_011538773.1:c.16461C>T	XP_011537075.1:p.Tyr5487=
XM_011538774.1:c.16452C>T	XP_011537076.1:p.Tyr5484=
XM_011538775.1:c.16407C>T	XP_011537077.1:p.Tyr5469=
XM_011538776.1:c.16380C>T	XP_011537078.1:p.Tyr5460=
XM_005269162.4:c.16416C>T	XP_005269219.1:p.Tyr5472=
XM_006719614.4:c.16425C>T	XP_006719677.1:p.Tyr5475=
XM_006719616.3:c.16413C>T	XP_006719679.1:p.Tyr5471=
XM_011538770.2:c.16473C>T	XP_011537072.1:p.Tyr5491=
XM_011538771.2:c.16470C>T	XP_011537073.1:p.Tyr5490=
XM_011538772.2:c.16464C>T	XP_011537074.1:p.Tyr5488=
XM_011538773.2:c.16461C>T	XP_011537075.1:p.Tyr5487=
XM_011538774.2:c.16452C>T	XP_011537076.1:p.Tyr5484=
XM_011538776.2:c.16380C>T	XP_011537078.1:p.Tyr5460=
XR_001748874.1:n.16593C>T
NM_003482.4:c.16416C>T MANE Select	NP_003473.3:p.Tyr5472=