Canonical Allele Identifier: CA6545401

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 2197330
• ClinVar RCV Id: RCV002637614
• dbSNP Id: rs373824252
• ExAC: 12:49416397 C / T
• gnomAD v2: 12-49416397-C-T
• gnomAD v4: 12-49022614-C-T
• MyVariant Identifiers: chr12:g.49416397C>T (hg19) ; chr12:g.49022614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022614C>T , CM000674.2:g.49022614C>T	GRCh38
NC_000012.11:g.49416397C>T , CM000674.1:g.49416397C>T	GRCh37
NC_000012.10:g.47702664C>T	NCBI36
NG_027827.1:g.37711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.284G>A
ENST00000681974.1:n.986G>A
ENST00000682693.1:n.1948G>A
ENST00000682886.1:n.484G>A
ENST00000683543.2:c.16362G>A	ENSP00000506726.1:p.Arg5454=
ENST00000683988.1:c.285G>A	ENSP00000506939.1:p.Arg95=
ENST00000684428.1:c.849G>A	ENSP00000507433.1:p.Arg283=
ENST00000684755.1:n.897G>A
ENST00000685024.1:c.1468G>A
ENST00000685166.1:c.16323G>A	ENSP00000509386.1:p.Arg5441=
ENST00000688411.1:c.791G>A	ENSP00000510146.1:n.791G>A
ENST00000691932.1:c.315G>A	ENSP00000509037.1:p.Arg105=
ENST00000692637.1:c.16311G>A	ENSP00000509666.1:p.Arg5437=
ENST00000301067.12:c.16314G>A MANE Select	ENSP00000301067.7:p.Arg5438=
ENST00000301067.11:c.16314G>A	ENSP00000301067.7:p.Arg5438=
ENST00000526209.1:c.357G>A	ENSP00000435714.1:p.Arg119=
NM_003482.3:c.16314G>A	NP_003473.3:p.Arg5438=
XM_005269162.3:c.16314G>A	XP_005269219.1:p.Arg5438=
XM_006719614.2:c.16323G>A	XP_006719677.1:p.Arg5441=
XM_006719616.2:c.16311G>A	XP_006719679.1:p.Arg5437=
XM_011538770.1:c.16371G>A	XP_011537072.1:p.Arg5457=
XM_011538771.1:c.16368G>A	XP_011537073.1:p.Arg5456=
XM_011538772.1:c.16362G>A	XP_011537074.1:p.Arg5454=
XM_011538773.1:c.16359G>A	XP_011537075.1:p.Arg5453=
XM_011538774.1:c.16350G>A	XP_011537076.1:p.Arg5450=
XM_011538775.1:c.16305G>A	XP_011537077.1:p.Arg5435=
XM_011538776.1:c.16278G>A	XP_011537078.1:p.Arg5426=
XM_005269162.4:c.16314G>A	XP_005269219.1:p.Arg5438=
XM_006719614.4:c.16323G>A	XP_006719677.1:p.Arg5441=
XM_006719616.3:c.16311G>A	XP_006719679.1:p.Arg5437=
XM_011538770.2:c.16371G>A	XP_011537072.1:p.Arg5457=
XM_011538771.2:c.16368G>A	XP_011537073.1:p.Arg5456=
XM_011538772.2:c.16362G>A	XP_011537074.1:p.Arg5454=
XM_011538773.2:c.16359G>A	XP_011537075.1:p.Arg5453=
XM_011538774.2:c.16350G>A	XP_011537076.1:p.Arg5450=
XM_011538776.2:c.16278G>A	XP_011537078.1:p.Arg5426=
XR_001748874.1:n.16491G>A
NM_003482.4:c.16314G>A MANE Select	NP_003473.3:p.Arg5438=