Canonical Allele Identifier: CA384681236

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418386G>A (hg19) ; chr12:g.49024603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024603G>A , CM000674.2:g.49024603G>A	GRCh38
NC_000012.11:g.49418386G>A , CM000674.1:g.49418386G>A	GRCh37
NC_000012.10:g.47704653G>A	NCBI36
NG_027827.1:g.35722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.699C>T
ENST00000683543.2:c.16027C>T	ENSP00000506726.1:p.Pro5343Ser
ENST00000683863.1:n.1742C>T
ENST00000684428.1:c.562C>T	ENSP00000507433.1:p.Pro188Ser
ENST00000684755.1:n.562C>T
ENST00000685024.1:c.1181C>T
ENST00000685166.1:c.16036C>T	ENSP00000509386.1:p.Pro5346Ser
ENST00000688411.1:c.504C>T	ENSP00000510146.1:n.504C>T
ENST00000691932.1:c.106C>T	ENSP00000509037.1:p.Pro36Ser
ENST00000692637.1:c.16024C>T	ENSP00000509666.1:p.Pro5342Ser
ENST00000301067.12:c.16027C>T MANE Select	ENSP00000301067.7:p.Pro5343Ser
ENST00000301067.11:c.16027C>T	ENSP00000301067.7:p.Pro5343Ser
ENST00000526209.1:c.22C>T	ENSP00000435714.1:p.Pro8Ser
NM_003482.3:c.16027C>T	NP_003473.3:p.Pro5343Ser
XM_005269162.3:c.16027C>T	XP_005269219.1:p.Pro5343Ser
XM_006719614.2:c.16036C>T	XP_006719677.1:p.Pro5346Ser
XM_006719616.2:c.16024C>T	XP_006719679.1:p.Pro5342Ser
XM_011538770.1:c.16036C>T	XP_011537072.1:p.Pro5346Ser
XM_011538771.1:c.16033C>T	XP_011537073.1:p.Pro5345Ser
XM_011538772.1:c.16027C>T	XP_011537074.1:p.Pro5343Ser
XM_011538773.1:c.16024C>T	XP_011537075.1:p.Pro5342Ser
XM_011538774.1:c.16015C>T	XP_011537076.1:p.Pro5339Ser
XM_011538775.1:c.15970C>T	XP_011537077.1:p.Pro5324Ser
XM_011538776.1:c.15943C>T	XP_011537078.1:p.Pro5315Ser
XM_005269162.4:c.16027C>T	XP_005269219.1:p.Pro5343Ser
XM_006719614.4:c.16036C>T	XP_006719677.1:p.Pro5346Ser
XM_006719616.3:c.16024C>T	XP_006719679.1:p.Pro5342Ser
XM_011538770.2:c.16036C>T	XP_011537072.1:p.Pro5346Ser
XM_011538771.2:c.16033C>T	XP_011537073.1:p.Pro5345Ser
XM_011538772.2:c.16027C>T	XP_011537074.1:p.Pro5343Ser
XM_011538773.2:c.16024C>T	XP_011537075.1:p.Pro5342Ser
XM_011538774.2:c.16015C>T	XP_011537076.1:p.Pro5339Ser
XM_011538776.2:c.15943C>T	XP_011537078.1:p.Pro5315Ser
XR_001748874.1:n.16204C>T
NM_003482.4:c.16027C>T MANE Select	NP_003473.3:p.Pro5343Ser