Canonical Allele Identifier: CA384677403

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706216
• MyVariant Identifiers: chr12:g.49416386A>C (hg19) ; chr12:g.49022603A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.295T>G
ENST00000681974.1:n.997T>G
ENST00000682693.1:n.1959T>G
ENST00000682886.1:n.495T>G
ENST00000683543.2:c.16373T>G	ENSP00000506726.1:p.Ile5458Ser
ENST00000683988.1:c.296T>G	ENSP00000506939.1:p.Ile99Ser
ENST00000684428.1:c.860T>G	ENSP00000507433.1:p.Ile287Ser
ENST00000684755.1:n.908T>G
ENST00000685024.1:c.1479T>G
ENST00000685166.1:c.16334T>G	ENSP00000509386.1:p.Ile5445Ser
ENST00000688411.1:c.802T>G	ENSP00000510146.1:n.802T>G
ENST00000691932.1:c.326T>G	ENSP00000509037.1:p.Ile109Ser
ENST00000692637.1:c.16322T>G	ENSP00000509666.1:p.Ile5441Ser
ENST00000301067.12:c.16325T>G MANE Select	ENSP00000301067.7:p.Ile5442Ser
ENST00000301067.11:c.16325T>G	ENSP00000301067.7:p.Ile5442Ser
ENST00000526209.1:c.368T>G	ENSP00000435714.1:p.Ile123Ser
NM_003482.3:c.16325T>G	NP_003473.3:p.Ile5442Ser
XM_005269162.3:c.16325T>G	XP_005269219.1:p.Ile5442Ser
XM_006719614.2:c.16334T>G	XP_006719677.1:p.Ile5445Ser
XM_006719616.2:c.16322T>G	XP_006719679.1:p.Ile5441Ser
XM_011538770.1:c.16382T>G	XP_011537072.1:p.Ile5461Ser
XM_011538771.1:c.16379T>G	XP_011537073.1:p.Ile5460Ser
XM_011538772.1:c.16373T>G	XP_011537074.1:p.Ile5458Ser
XM_011538773.1:c.16370T>G	XP_011537075.1:p.Ile5457Ser
XM_011538774.1:c.16361T>G	XP_011537076.1:p.Ile5454Ser
XM_011538775.1:c.16316T>G	XP_011537077.1:p.Ile5439Ser
XM_011538776.1:c.16289T>G	XP_011537078.1:p.Ile5430Ser
XM_005269162.4:c.16325T>G	XP_005269219.1:p.Ile5442Ser
XM_006719614.4:c.16334T>G	XP_006719677.1:p.Ile5445Ser
XM_006719616.3:c.16322T>G	XP_006719679.1:p.Ile5441Ser
XM_011538770.2:c.16382T>G	XP_011537072.1:p.Ile5461Ser
XM_011538771.2:c.16379T>G	XP_011537073.1:p.Ile5460Ser
XM_011538772.2:c.16373T>G	XP_011537074.1:p.Ile5458Ser
XM_011538773.2:c.16370T>G	XP_011537075.1:p.Ile5457Ser
XM_011538774.2:c.16361T>G	XP_011537076.1:p.Ile5454Ser
XM_011538776.2:c.16289T>G	XP_011537078.1:p.Ile5430Ser
XR_001748874.1:n.16502T>G
NM_003482.4:c.16325T>G MANE Select	NP_003473.3:p.Ile5442Ser