Canonical Allele Identifier: CA271613

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 158743
• ClinVar RCV Id: RCV000146184
• dbSNP Id: rs587783702
• MyVariant Identifiers: chr12:g.49415934C>A (hg19) ; chr12:g.49022151C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022151C>A , CM000674.2:g.49022151C>A	GRCh38
NC_000012.11:g.49415934C>A , CM000674.1:g.49415934C>A	GRCh37
NC_000012.10:g.47702201C>A	NCBI36
NG_027827.1:g.38174G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.383G>T
ENST00000681974.1:n.1085G>T
ENST00000682693.1:n.2047G>T
ENST00000682886.1:n.819G>T
ENST00000683543.2:c.16461G>T	ENSP00000506726.1:p.Arg5487Ser
ENST00000683988.1:c.384G>T	ENSP00000506939.1:p.Arg128Ser
ENST00000684428.1:c.1006G>T	ENSP00000507433.1:n.1006G>T
ENST00000685024.1:c.1567G>T
ENST00000685166.1:c.16422G>T	ENSP00000509386.1:p.Arg5474Ser
ENST00000691932.1:c.414G>T	ENSP00000509037.1:p.Arg138Ser
ENST00000692637.1:c.16410G>T	ENSP00000509666.1:p.Arg5470Ser
ENST00000301067.12:c.16413G>T MANE Select	ENSP00000301067.7:p.Arg5471Ser
ENST00000301067.11:c.16413G>T	ENSP00000301067.7:p.Arg5471Ser
ENST00000526209.1:c.456G>T	ENSP00000435714.1:p.Arg152Ser
NM_003482.3:c.16413G>T	NP_003473.3:p.Arg5471Ser
XM_005269162.3:c.16413G>T	XP_005269219.1:p.Arg5471Ser
XM_006719614.2:c.16422G>T	XP_006719677.1:p.Arg5474Ser
XM_006719616.2:c.16410G>T	XP_006719679.1:p.Arg5470Ser
XM_011538770.1:c.16470G>T	XP_011537072.1:p.Arg5490Ser
XM_011538771.1:c.16467G>T	XP_011537073.1:p.Arg5489Ser
XM_011538772.1:c.16461G>T	XP_011537074.1:p.Arg5487Ser
XM_011538773.1:c.16458G>T	XP_011537075.1:p.Arg5486Ser
XM_011538774.1:c.16449G>T	XP_011537076.1:p.Arg5483Ser
XM_011538775.1:c.16404G>T	XP_011537077.1:p.Arg5468Ser
XM_011538776.1:c.16377G>T	XP_011537078.1:p.Arg5459Ser
XM_005269162.4:c.16413G>T	XP_005269219.1:p.Arg5471Ser
XM_006719614.4:c.16422G>T	XP_006719677.1:p.Arg5474Ser
XM_006719616.3:c.16410G>T	XP_006719679.1:p.Arg5470Ser
XM_011538770.2:c.16470G>T	XP_011537072.1:p.Arg5490Ser
XM_011538771.2:c.16467G>T	XP_011537073.1:p.Arg5489Ser
XM_011538772.2:c.16461G>T	XP_011537074.1:p.Arg5487Ser
XM_011538773.2:c.16458G>T	XP_011537075.1:p.Arg5486Ser
XM_011538774.2:c.16449G>T	XP_011537076.1:p.Arg5483Ser
XM_011538776.2:c.16377G>T	XP_011537078.1:p.Arg5459Ser
XR_001748874.1:n.16590G>T
NM_003482.4:c.16413G>T MANE Select	NP_003473.3:p.Arg5471Ser