Canonical Allele Identifier: CA384681419

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418415A>C (hg19) ; chr12:g.49024632A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024632A>C , CM000674.2:g.49024632A>C	GRCh38
NC_000012.11:g.49418415A>C , CM000674.1:g.49418415A>C	GRCh37
NC_000012.10:g.47704682A>C	NCBI36
NG_027827.1:g.35693T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.670T>G
ENST00000683543.2:c.15998T>G	ENSP00000506726.1:p.Ile5333Ser
ENST00000683863.1:n.1713T>G
ENST00000684428.1:c.533T>G	ENSP00000507433.1:p.Ile178Ser
ENST00000684755.1:n.533T>G
ENST00000685024.1:c.1152T>G
ENST00000685166.1:c.16007T>G	ENSP00000509386.1:p.Ile5336Ser
ENST00000688411.1:c.475T>G	ENSP00000510146.1:n.475T>G
ENST00000691932.1:c.77T>G	ENSP00000509037.1:p.Ile26Ser
ENST00000692637.1:c.15995T>G	ENSP00000509666.1:p.Ile5332Ser
ENST00000301067.12:c.15998T>G MANE Select	ENSP00000301067.7:p.Ile5333Ser
ENST00000301067.11:c.15998T>G	ENSP00000301067.7:p.Ile5333Ser
NM_003482.3:c.15998T>G	NP_003473.3:p.Ile5333Ser
XM_005269162.3:c.15998T>G	XP_005269219.1:p.Ile5333Ser
XM_006719614.2:c.16007T>G	XP_006719677.1:p.Ile5336Ser
XM_006719616.2:c.15995T>G	XP_006719679.1:p.Ile5332Ser
XM_011538770.1:c.16007T>G	XP_011537072.1:p.Ile5336Ser
XM_011538771.1:c.16004T>G	XP_011537073.1:p.Ile5335Ser
XM_011538772.1:c.15998T>G	XP_011537074.1:p.Ile5333Ser
XM_011538773.1:c.15995T>G	XP_011537075.1:p.Ile5332Ser
XM_011538774.1:c.15986T>G	XP_011537076.1:p.Ile5329Ser
XM_011538775.1:c.15941T>G	XP_011537077.1:p.Ile5314Ser
XM_011538776.1:c.15914T>G	XP_011537078.1:p.Ile5305Ser
XM_005269162.4:c.15998T>G	XP_005269219.1:p.Ile5333Ser
XM_006719614.4:c.16007T>G	XP_006719677.1:p.Ile5336Ser
XM_006719616.3:c.15995T>G	XP_006719679.1:p.Ile5332Ser
XM_011538770.2:c.16007T>G	XP_011537072.1:p.Ile5336Ser
XM_011538771.2:c.16004T>G	XP_011537073.1:p.Ile5335Ser
XM_011538772.2:c.15998T>G	XP_011537074.1:p.Ile5333Ser
XM_011538773.2:c.15995T>G	XP_011537075.1:p.Ile5332Ser
XM_011538774.2:c.15986T>G	XP_011537076.1:p.Ile5329Ser
XM_011538776.2:c.15914T>G	XP_011537078.1:p.Ile5305Ser
XR_001748874.1:n.16175T>G
NM_003482.4:c.15998T>G MANE Select	NP_003473.3:p.Ile5333Ser