Canonical Allele Identifier: CA479521671

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418408G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024625G>T , CM000674.2:g.49024625G>T	GRCh38
NC_000012.11:g.49418408G>T , CM000674.1:g.49418408G>T	GRCh37
NC_000012.10:g.47704675G>T	NCBI36
NG_027827.1:g.35700C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.677C>A
ENST00000683543.2:c.16005C>A	ENSP00000506726.1:p.Pro5335=
ENST00000683863.1:n.1720C>A
ENST00000684428.1:c.540C>A	ENSP00000507433.1:p.Pro180=
ENST00000684755.1:n.540C>A
ENST00000685024.1:c.1159C>A
ENST00000685166.1:c.16014C>A	ENSP00000509386.1:p.Pro5338=
ENST00000688411.1:c.482C>A	ENSP00000510146.1:n.482C>A
ENST00000691932.1:c.84C>A	ENSP00000509037.1:p.Pro28=
ENST00000692637.1:c.16002C>A	ENSP00000509666.1:p.Pro5334=
ENST00000301067.12:c.16005C>A MANE Select	ENSP00000301067.7:p.Pro5335=
ENST00000301067.11:c.16005C>A	ENSP00000301067.7:p.Pro5335=
NM_003482.3:c.16005C>A	NP_003473.3:p.Pro5335=
XM_005269162.3:c.16005C>A	XP_005269219.1:p.Pro5335=
XM_006719614.2:c.16014C>A	XP_006719677.1:p.Pro5338=
XM_006719616.2:c.16002C>A	XP_006719679.1:p.Pro5334=
XM_011538770.1:c.16014C>A	XP_011537072.1:p.Pro5338=
XM_011538771.1:c.16011C>A	XP_011537073.1:p.Pro5337=
XM_011538772.1:c.16005C>A	XP_011537074.1:p.Pro5335=
XM_011538773.1:c.16002C>A	XP_011537075.1:p.Pro5334=
XM_011538774.1:c.15993C>A	XP_011537076.1:p.Pro5331=
XM_011538775.1:c.15948C>A	XP_011537077.1:p.Pro5316=
XM_011538776.1:c.15921C>A	XP_011537078.1:p.Pro5307=
XM_005269162.4:c.16005C>A	XP_005269219.1:p.Pro5335=
XM_006719614.4:c.16014C>A	XP_006719677.1:p.Pro5338=
XM_006719616.3:c.16002C>A	XP_006719679.1:p.Pro5334=
XM_011538770.2:c.16014C>A	XP_011537072.1:p.Pro5338=
XM_011538771.2:c.16011C>A	XP_011537073.1:p.Pro5337=
XM_011538772.2:c.16005C>A	XP_011537074.1:p.Pro5335=
XM_011538773.2:c.16002C>A	XP_011537075.1:p.Pro5334=
XM_011538774.2:c.15993C>A	XP_011537076.1:p.Pro5331=
XM_011538776.2:c.15921C>A	XP_011537078.1:p.Pro5307=
XR_001748874.1:n.16182C>A
NM_003482.4:c.16005C>A MANE Select	NP_003473.3:p.Pro5335=