Canonical Allele Identifier: CA384627960

Gene: KMT2D

Linked Data

• dbSNP Id: rs1319081207
• gnomAD v4: 12-49042568-C-G
• COSMIC: COSM431212 ; COSM431213
• MyVariant Identifiers: chr12:g.49436351C>G (hg19) ; chr12:g.49042568C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042568C>G , CM000674.2:g.49042568C>G	GRCh38
NC_000012.11:g.49436351C>G , CM000674.1:g.49436351C>G	GRCh37
NC_000012.10:g.47722618C>G	NCBI36
NG_027827.1:g.17757G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.672G>C
ENST00000683543.2:c.5860G>C	ENSP00000506726.1:p.Asp1954His
ENST00000685166.1:c.5869G>C	ENSP00000509386.1:p.Asp1957His
ENST00000688095.1:c.1809G>C	ENSP00000510007.1:n.1809G>C
ENST00000692637.1:c.5857G>C	ENSP00000509666.1:p.Asp1953His
ENST00000301067.12:c.5860G>C MANE Select	ENSP00000301067.7:p.Asp1954His
ENST00000301067.11:c.5860G>C	ENSP00000301067.7:p.Asp1954His
NM_003482.3:c.5860G>C	NP_003473.3:p.Asp1954His
XM_005269162.3:c.5860G>C	XP_005269219.1:p.Asp1954His
XM_006719614.2:c.5869G>C	XP_006719677.1:p.Asp1957His
XM_006719616.2:c.5857G>C	XP_006719679.1:p.Asp1953His
XM_011538770.1:c.5869G>C	XP_011537072.1:p.Asp1957His
XM_011538771.1:c.5866G>C	XP_011537073.1:p.Asp1956His
XM_011538772.1:c.5860G>C	XP_011537074.1:p.Asp1954His
XM_011538773.1:c.5857G>C	XP_011537075.1:p.Asp1953His
XM_011538774.1:c.5869G>C	XP_011537076.1:p.Asp1957His
XM_011538775.1:c.5869G>C	XP_011537077.1:p.Asp1957His
XM_011538776.1:c.5869G>C	XP_011537078.1:p.Asp1957His
XR_944740.1:n.8189G>C
XM_005269162.4:c.5860G>C	XP_005269219.1:p.Asp1954His
XM_006719614.4:c.5869G>C	XP_006719677.1:p.Asp1957His
XM_006719616.3:c.5857G>C	XP_006719679.1:p.Asp1953His
XM_011538770.2:c.5869G>C	XP_011537072.1:p.Asp1957His
XM_011538771.2:c.5866G>C	XP_011537073.1:p.Asp1956His
XM_011538772.2:c.5860G>C	XP_011537074.1:p.Asp1954His
XM_011538773.2:c.5857G>C	XP_011537075.1:p.Asp1953His
XM_011538774.2:c.5869G>C	XP_011537076.1:p.Asp1957His
XM_011538776.2:c.5869G>C	XP_011537078.1:p.Asp1957His
XR_001748874.1:n.7178G>C
NM_003482.4:c.5860G>C MANE Select	NP_003473.3:p.Asp1954His