Canonical Allele Identifier: CA384675911

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415869T>G (hg19) ; chr12:g.49022086T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022086T>G , CM000674.2:g.49022086T>G	GRCh38
NC_000012.11:g.49415869T>G , CM000674.1:g.49415869T>G	GRCh37
NC_000012.10:g.47702136T>G	NCBI36
NG_027827.1:g.38239A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.448A>C
ENST00000681974.1:n.1150A>C
ENST00000682693.1:n.2112A>C
ENST00000682886.1:n.884A>C
ENST00000683543.2:c.16526A>C	ENSP00000506726.1:p.Lys5509Thr
ENST00000683988.1:c.449A>C	ENSP00000506939.1:p.Lys150Thr
ENST00000684428.1:c.1071A>C	ENSP00000507433.1:n.1071A>C
ENST00000685024.1:c.1632A>C
ENST00000685166.1:c.16487A>C	ENSP00000509386.1:p.Lys5496Thr
ENST00000691932.1:c.479A>C	ENSP00000509037.1:p.Lys160Thr
ENST00000692637.1:c.16475A>C	ENSP00000509666.1:p.Lys5492Thr
ENST00000301067.12:c.16478A>C MANE Select	ENSP00000301067.7:p.Lys5493Thr
ENST00000301067.11:c.16478A>C	ENSP00000301067.7:p.Lys5493Thr
ENST00000526209.1:c.521A>C	ENSP00000435714.1:p.Lys174Thr
NM_003482.3:c.16478A>C	NP_003473.3:p.Lys5493Thr
XM_005269162.3:c.16478A>C	XP_005269219.1:p.Lys5493Thr
XM_006719614.2:c.16487A>C	XP_006719677.1:p.Lys5496Thr
XM_006719616.2:c.16475A>C	XP_006719679.1:p.Lys5492Thr
XM_011538770.1:c.16535A>C	XP_011537072.1:p.Lys5512Thr
XM_011538771.1:c.16532A>C	XP_011537073.1:p.Lys5511Thr
XM_011538772.1:c.16526A>C	XP_011537074.1:p.Lys5509Thr
XM_011538773.1:c.16523A>C	XP_011537075.1:p.Lys5508Thr
XM_011538774.1:c.16514A>C	XP_011537076.1:p.Lys5505Thr
XM_011538775.1:c.16469A>C	XP_011537077.1:p.Lys5490Thr
XM_011538776.1:c.16442A>C	XP_011537078.1:p.Lys5481Thr
XM_005269162.4:c.16478A>C	XP_005269219.1:p.Lys5493Thr
XM_006719614.4:c.16487A>C	XP_006719677.1:p.Lys5496Thr
XM_006719616.3:c.16475A>C	XP_006719679.1:p.Lys5492Thr
XM_011538770.2:c.16535A>C	XP_011537072.1:p.Lys5512Thr
XM_011538771.2:c.16532A>C	XP_011537073.1:p.Lys5511Thr
XM_011538772.2:c.16526A>C	XP_011537074.1:p.Lys5509Thr
XM_011538773.2:c.16523A>C	XP_011537075.1:p.Lys5508Thr
XM_011538774.2:c.16514A>C	XP_011537076.1:p.Lys5505Thr
XM_011538776.2:c.16442A>C	XP_011537078.1:p.Lys5481Thr
XR_001748874.1:n.16655A>C
NM_003482.4:c.16478A>C MANE Select	NP_003473.3:p.Lys5493Thr