Canonical Allele Identifier: CA384677624

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706399
• MyVariant Identifiers: chr12:g.49416419A>G (hg19) ; chr12:g.49022636A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022636A>G , CM000674.2:g.49022636A>G	GRCh38
NC_000012.11:g.49416419A>G , CM000674.1:g.49416419A>G	GRCh37
NC_000012.10:g.47702686A>G	NCBI36
NG_027827.1:g.37689T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.262T>C
ENST00000681974.1:n.964T>C
ENST00000682693.1:n.1926T>C
ENST00000682886.1:n.462T>C
ENST00000683543.2:c.16340T>C	ENSP00000506726.1:p.Ile5447Thr
ENST00000683988.1:c.263T>C	ENSP00000506939.1:p.Ile88Thr
ENST00000684428.1:c.827T>C	ENSP00000507433.1:p.Ile276Thr
ENST00000684755.1:n.875T>C
ENST00000685024.1:c.1446T>C
ENST00000685166.1:c.16301T>C	ENSP00000509386.1:p.Ile5434Thr
ENST00000688411.1:c.769T>C	ENSP00000510146.1:n.769T>C
ENST00000691932.1:c.293T>C	ENSP00000509037.1:p.Ile98Thr
ENST00000692637.1:c.16289T>C	ENSP00000509666.1:p.Ile5430Thr
ENST00000301067.12:c.16292T>C MANE Select	ENSP00000301067.7:p.Ile5431Thr
ENST00000301067.11:c.16292T>C	ENSP00000301067.7:p.Ile5431Thr
ENST00000526209.1:c.335T>C	ENSP00000435714.1:p.Ile112Thr
NM_003482.3:c.16292T>C	NP_003473.3:p.Ile5431Thr
XM_005269162.3:c.16292T>C	XP_005269219.1:p.Ile5431Thr
XM_006719614.2:c.16301T>C	XP_006719677.1:p.Ile5434Thr
XM_006719616.2:c.16289T>C	XP_006719679.1:p.Ile5430Thr
XM_011538770.1:c.16349T>C	XP_011537072.1:p.Ile5450Thr
XM_011538771.1:c.16346T>C	XP_011537073.1:p.Ile5449Thr
XM_011538772.1:c.16340T>C	XP_011537074.1:p.Ile5447Thr
XM_011538773.1:c.16337T>C	XP_011537075.1:p.Ile5446Thr
XM_011538774.1:c.16328T>C	XP_011537076.1:p.Ile5443Thr
XM_011538775.1:c.16283T>C	XP_011537077.1:p.Ile5428Thr
XM_011538776.1:c.16256T>C	XP_011537078.1:p.Ile5419Thr
XM_005269162.4:c.16292T>C	XP_005269219.1:p.Ile5431Thr
XM_006719614.4:c.16301T>C	XP_006719677.1:p.Ile5434Thr
XM_006719616.3:c.16289T>C	XP_006719679.1:p.Ile5430Thr
XM_011538770.2:c.16349T>C	XP_011537072.1:p.Ile5450Thr
XM_011538771.2:c.16346T>C	XP_011537073.1:p.Ile5449Thr
XM_011538772.2:c.16340T>C	XP_011537074.1:p.Ile5447Thr
XM_011538773.2:c.16337T>C	XP_011537075.1:p.Ile5446Thr
XM_011538774.2:c.16328T>C	XP_011537076.1:p.Ile5443Thr
XM_011538776.2:c.16256T>C	XP_011537078.1:p.Ile5419Thr
XR_001748874.1:n.16469T>C
NM_003482.4:c.16292T>C MANE Select	NP_003473.3:p.Ile5431Thr