Canonical Allele Identifier: CA479710536

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49433022A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039239A>T , CM000674.2:g.49039239A>T	GRCh38
NC_000012.11:g.49433022A>T , CM000674.1:g.49433022A>T	GRCh37
NC_000012.10:g.47719289A>T	NCBI36
NG_027827.1:g.21086T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683043.1:n.48T>A
ENST00000683543.2:c.8349T>A	ENSP00000506726.1:p.Ser2783=
ENST00000685166.1:c.8358T>A	ENSP00000509386.1:p.Ser2786=
ENST00000689060.1:c.2368T>A
ENST00000689143.1:c.2022T>A	ENSP00000509839.1:p.Ser674=
ENST00000689944.1:c.2458T>A
ENST00000692637.1:c.8346T>A	ENSP00000509666.1:p.Ser2782=
ENST00000301067.12:c.8349T>A MANE Select	ENSP00000301067.7:p.Ser2783=
ENST00000301067.11:c.8349T>A	ENSP00000301067.7:p.Ser2783=
ENST00000549799.1:n.61T>A
NM_003482.3:c.8349T>A	NP_003473.3:p.Ser2783=
XM_005269162.3:c.8349T>A	XP_005269219.1:p.Ser2783=
XM_006719614.2:c.8358T>A	XP_006719677.1:p.Ser2786=
XM_006719616.2:c.8346T>A	XP_006719679.1:p.Ser2782=
XM_011538770.1:c.8358T>A	XP_011537072.1:p.Ser2786=
XM_011538771.1:c.8355T>A	XP_011537073.1:p.Ser2785=
XM_011538772.1:c.8349T>A	XP_011537074.1:p.Ser2783=
XM_011538773.1:c.8346T>A	XP_011537075.1:p.Ser2782=
XM_011538774.1:c.8337T>A	XP_011537076.1:p.Ser2779=
XM_011538775.1:c.8358T>A	XP_011537077.1:p.Ser2786=
XM_011538776.1:c.8265T>A	XP_011537078.1:p.Ser2755=
XR_944740.1:n.10678T>A
XM_005269162.4:c.8349T>A	XP_005269219.1:p.Ser2783=
XM_006719614.4:c.8358T>A	XP_006719677.1:p.Ser2786=
XM_006719616.3:c.8346T>A	XP_006719679.1:p.Ser2782=
XM_011538770.2:c.8358T>A	XP_011537072.1:p.Ser2786=
XM_011538771.2:c.8355T>A	XP_011537073.1:p.Ser2785=
XM_011538772.2:c.8349T>A	XP_011537074.1:p.Ser2783=
XM_011538773.2:c.8346T>A	XP_011537075.1:p.Ser2782=
XM_011538774.2:c.8337T>A	XP_011537076.1:p.Ser2779=
XM_011538776.2:c.8265T>A	XP_011537078.1:p.Ser2755=
XR_001748874.1:n.9667T>A
NM_003482.4:c.8349T>A MANE Select	NP_003473.3:p.Ser2783=