Canonical Allele Identifier: CA384677404

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416386A>G (hg19) ; chr12:g.49022603A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022603A>G , CM000674.2:g.49022603A>G	GRCh38
NC_000012.11:g.49416386A>G , CM000674.1:g.49416386A>G	GRCh37
NC_000012.10:g.47702653A>G	NCBI36
NG_027827.1:g.37722T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.295T>C
ENST00000681974.1:n.997T>C
ENST00000682693.1:n.1959T>C
ENST00000682886.1:n.495T>C
ENST00000683543.2:c.16373T>C	ENSP00000506726.1:p.Ile5458Thr
ENST00000683988.1:c.296T>C	ENSP00000506939.1:p.Ile99Thr
ENST00000684428.1:c.860T>C	ENSP00000507433.1:p.Ile287Thr
ENST00000684755.1:n.908T>C
ENST00000685024.1:c.1479T>C
ENST00000685166.1:c.16334T>C	ENSP00000509386.1:p.Ile5445Thr
ENST00000688411.1:c.802T>C	ENSP00000510146.1:n.802T>C
ENST00000691932.1:c.326T>C	ENSP00000509037.1:p.Ile109Thr
ENST00000692637.1:c.16322T>C	ENSP00000509666.1:p.Ile5441Thr
ENST00000301067.12:c.16325T>C MANE Select	ENSP00000301067.7:p.Ile5442Thr
ENST00000301067.11:c.16325T>C	ENSP00000301067.7:p.Ile5442Thr
ENST00000526209.1:c.368T>C	ENSP00000435714.1:p.Ile123Thr
NM_003482.3:c.16325T>C	NP_003473.3:p.Ile5442Thr
XM_005269162.3:c.16325T>C	XP_005269219.1:p.Ile5442Thr
XM_006719614.2:c.16334T>C	XP_006719677.1:p.Ile5445Thr
XM_006719616.2:c.16322T>C	XP_006719679.1:p.Ile5441Thr
XM_011538770.1:c.16382T>C	XP_011537072.1:p.Ile5461Thr
XM_011538771.1:c.16379T>C	XP_011537073.1:p.Ile5460Thr
XM_011538772.1:c.16373T>C	XP_011537074.1:p.Ile5458Thr
XM_011538773.1:c.16370T>C	XP_011537075.1:p.Ile5457Thr
XM_011538774.1:c.16361T>C	XP_011537076.1:p.Ile5454Thr
XM_011538775.1:c.16316T>C	XP_011537077.1:p.Ile5439Thr
XM_011538776.1:c.16289T>C	XP_011537078.1:p.Ile5430Thr
XM_005269162.4:c.16325T>C	XP_005269219.1:p.Ile5442Thr
XM_006719614.4:c.16334T>C	XP_006719677.1:p.Ile5445Thr
XM_006719616.3:c.16322T>C	XP_006719679.1:p.Ile5441Thr
XM_011538770.2:c.16382T>C	XP_011537072.1:p.Ile5461Thr
XM_011538771.2:c.16379T>C	XP_011537073.1:p.Ile5460Thr
XM_011538772.2:c.16373T>C	XP_011537074.1:p.Ile5458Thr
XM_011538773.2:c.16370T>C	XP_011537075.1:p.Ile5457Thr
XM_011538774.2:c.16361T>C	XP_011537076.1:p.Ile5454Thr
XM_011538776.2:c.16289T>C	XP_011537078.1:p.Ile5430Thr
XR_001748874.1:n.16502T>C
NM_003482.4:c.16325T>C MANE Select	NP_003473.3:p.Ile5442Thr