Canonical Allele Identifier: CA384676631

Gene: KMT2D

Linked Data

• dbSNP Id: rs1555184684
• MyVariant Identifiers: chr12:g.49416063C>A (hg19) ; chr12:g.49022280C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022280C>A , CM000674.2:g.49022280C>A	GRCh38
NC_000012.11:g.49416063C>A , CM000674.1:g.49416063C>A	GRCh37
NC_000012.10:g.47702330C>A	NCBI36
NG_027827.1:g.38045G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526209.2:c.382G>T
ENST00000681974.1:n.1084G>T
ENST00000682693.1:n.2046G>T
ENST00000682886.1:n.818G>T
ENST00000683543.2:c.16460G>T	ENSP00000506726.1:p.Arg5487Met
ENST00000683988.1:c.383G>T	ENSP00000506939.1:p.Arg128Met
ENST00000684428.1:c.1005G>T	ENSP00000507433.1:n.1005G>T
ENST00000685024.1:c.1566G>T
ENST00000685166.1:c.16421G>T	ENSP00000509386.1:p.Arg5474Met
ENST00000691932.1:c.413G>T	ENSP00000509037.1:p.Arg138Met
ENST00000692637.1:c.16409G>T	ENSP00000509666.1:p.Arg5470Met
ENST00000301067.12:c.16412G>T MANE Select	ENSP00000301067.7:p.Arg5471Met
ENST00000301067.11:c.16412G>T	ENSP00000301067.7:p.Arg5471Met
ENST00000526209.1:c.455G>T	ENSP00000435714.1:p.Arg152Met
NM_003482.3:c.16412G>T	NP_003473.3:p.Arg5471Met
XM_005269162.3:c.16412G>T	XP_005269219.1:p.Arg5471Met
XM_006719614.2:c.16421G>T	XP_006719677.1:p.Arg5474Met
XM_006719616.2:c.16409G>T	XP_006719679.1:p.Arg5470Met
XM_011538770.1:c.16469G>T	XP_011537072.1:p.Arg5490Met
XM_011538771.1:c.16466G>T	XP_011537073.1:p.Arg5489Met
XM_011538772.1:c.16460G>T	XP_011537074.1:p.Arg5487Met
XM_011538773.1:c.16457G>T	XP_011537075.1:p.Arg5486Met
XM_011538774.1:c.16448G>T	XP_011537076.1:p.Arg5483Met
XM_011538775.1:c.16403G>T	XP_011537077.1:p.Arg5468Met
XM_011538776.1:c.16376G>T	XP_011537078.1:p.Arg5459Met
XM_005269162.4:c.16412G>T	XP_005269219.1:p.Arg5471Met
XM_006719614.4:c.16421G>T	XP_006719677.1:p.Arg5474Met
XM_006719616.3:c.16409G>T	XP_006719679.1:p.Arg5470Met
XM_011538770.2:c.16469G>T	XP_011537072.1:p.Arg5490Met
XM_011538771.2:c.16466G>T	XP_011537073.1:p.Arg5489Met
XM_011538772.2:c.16460G>T	XP_011537074.1:p.Arg5487Met
XM_011538773.2:c.16457G>T	XP_011537075.1:p.Arg5486Met
XM_011538774.2:c.16448G>T	XP_011537076.1:p.Arg5483Met
XM_011538776.2:c.16376G>T	XP_011537078.1:p.Arg5459Met
XR_001748874.1:n.16589G>T
NM_003482.4:c.16412G>T MANE Select	NP_003473.3:p.Arg5471Met