Canonical Allele Identifier: CA479710699

Gene: KMT2D

Linked Data

• dbSNP Id: rs1592132885
• MyVariant Identifiers: chr12:g.49433112T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039329T>G , CM000674.2:g.49039329T>G	GRCh38
NC_000012.11:g.49433112T>G , CM000674.1:g.49433112T>G	GRCh37
NC_000012.10:g.47719379T>G	NCBI36
NG_027827.1:g.20996A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8259A>C	ENSP00000506726.1:p.Pro2753=
ENST00000685166.1:c.8268A>C	ENSP00000509386.1:p.Pro2756=
ENST00000689060.1:c.2278A>C
ENST00000689143.1:c.1932A>C	ENSP00000509839.1:p.Pro644=
ENST00000689944.1:c.2368A>C
ENST00000692637.1:c.8256A>C	ENSP00000509666.1:p.Pro2752=
ENST00000301067.12:c.8259A>C MANE Select	ENSP00000301067.7:p.Pro2753=
ENST00000301067.11:c.8259A>C	ENSP00000301067.7:p.Pro2753=
NM_003482.3:c.8259A>C	NP_003473.3:p.Pro2753=
XM_005269162.3:c.8259A>C	XP_005269219.1:p.Pro2753=
XM_006719614.2:c.8268A>C	XP_006719677.1:p.Pro2756=
XM_006719616.2:c.8256A>C	XP_006719679.1:p.Pro2752=
XM_011538770.1:c.8268A>C	XP_011537072.1:p.Pro2756=
XM_011538771.1:c.8265A>C	XP_011537073.1:p.Pro2755=
XM_011538772.1:c.8259A>C	XP_011537074.1:p.Pro2753=
XM_011538773.1:c.8256A>C	XP_011537075.1:p.Pro2752=
XM_011538774.1:c.8247A>C	XP_011537076.1:p.Pro2749=
XM_011538775.1:c.8268A>C	XP_011537077.1:p.Pro2756=
XM_011538776.1:c.8175A>C	XP_011537078.1:p.Pro2725=
XR_944740.1:n.10588A>C
XM_005269162.4:c.8259A>C	XP_005269219.1:p.Pro2753=
XM_006719614.4:c.8268A>C	XP_006719677.1:p.Pro2756=
XM_006719616.3:c.8256A>C	XP_006719679.1:p.Pro2752=
XM_011538770.2:c.8268A>C	XP_011537072.1:p.Pro2756=
XM_011538771.2:c.8265A>C	XP_011537073.1:p.Pro2755=
XM_011538772.2:c.8259A>C	XP_011537074.1:p.Pro2753=
XM_011538773.2:c.8256A>C	XP_011537075.1:p.Pro2752=
XM_011538774.2:c.8247A>C	XP_011537076.1:p.Pro2749=
XM_011538776.2:c.8175A>C	XP_011537078.1:p.Pro2725=
XR_001748874.1:n.9577A>C
NM_003482.4:c.8259A>C MANE Select	NP_003473.3:p.Pro2753=