Canonical Allele Identifier: CA479521008

Gene: KMT2D

Linked Data

• dbSNP Id: rs757610867
• MyVariant Identifiers: chr12:g.49416083C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022300C>G , CM000674.2:g.49022300C>G	GRCh38
NC_000012.11:g.49416083C>G , CM000674.1:g.49416083C>G	GRCh37
NC_000012.10:g.47702350C>G	NCBI36
NG_027827.1:g.38025G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.362G>C
ENST00000681974.1:n.1064G>C
ENST00000682693.1:n.2026G>C
ENST00000682886.1:n.798G>C
ENST00000683543.2:c.16440G>C	ENSP00000506726.1:p.Thr5480=
ENST00000683988.1:c.363G>C	ENSP00000506939.1:p.Thr121=
ENST00000684428.1:c.985G>C	ENSP00000507433.1:n.985G>C
ENST00000685024.1:c.1546G>C
ENST00000685166.1:c.16401G>C	ENSP00000509386.1:p.Thr5467=
ENST00000691932.1:c.393G>C	ENSP00000509037.1:p.Thr131=
ENST00000692637.1:c.16389G>C	ENSP00000509666.1:p.Thr5463=
ENST00000301067.12:c.16392G>C MANE Select	ENSP00000301067.7:p.Thr5464=
ENST00000301067.11:c.16392G>C	ENSP00000301067.7:p.Thr5464=
ENST00000526209.1:c.435G>C	ENSP00000435714.1:p.Thr145=
NM_003482.3:c.16392G>C	NP_003473.3:p.Thr5464=
XM_005269162.3:c.16392G>C	XP_005269219.1:p.Thr5464=
XM_006719614.2:c.16401G>C	XP_006719677.1:p.Thr5467=
XM_006719616.2:c.16389G>C	XP_006719679.1:p.Thr5463=
XM_011538770.1:c.16449G>C	XP_011537072.1:p.Thr5483=
XM_011538771.1:c.16446G>C	XP_011537073.1:p.Thr5482=
XM_011538772.1:c.16440G>C	XP_011537074.1:p.Thr5480=
XM_011538773.1:c.16437G>C	XP_011537075.1:p.Thr5479=
XM_011538774.1:c.16428G>C	XP_011537076.1:p.Thr5476=
XM_011538775.1:c.16383G>C	XP_011537077.1:p.Thr5461=
XM_011538776.1:c.16356G>C	XP_011537078.1:p.Thr5452=
XM_005269162.4:c.16392G>C	XP_005269219.1:p.Thr5464=
XM_006719614.4:c.16401G>C	XP_006719677.1:p.Thr5467=
XM_006719616.3:c.16389G>C	XP_006719679.1:p.Thr5463=
XM_011538770.2:c.16449G>C	XP_011537072.1:p.Thr5483=
XM_011538771.2:c.16446G>C	XP_011537073.1:p.Thr5482=
XM_011538772.2:c.16440G>C	XP_011537074.1:p.Thr5480=
XM_011538773.2:c.16437G>C	XP_011537075.1:p.Thr5479=
XM_011538774.2:c.16428G>C	XP_011537076.1:p.Thr5476=
XM_011538776.2:c.16356G>C	XP_011537078.1:p.Thr5452=
XR_001748874.1:n.16569G>C
NM_003482.4:c.16392G>C MANE Select	NP_003473.3:p.Thr5464=