Canonical Allele Identifier: CA384704189

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49425023C>G (hg19) ; chr12:g.49031240C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49031240C>G , CM000674.2:g.49031240C>G	GRCh38
NC_000012.11:g.49425023C>G , CM000674.1:g.49425023C>G	GRCh37
NC_000012.10:g.47711290C>G	NCBI36
NG_027827.1:g.29085G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.165G>C
ENST00000683543.2:c.13465G>C	ENSP00000506726.1:p.Gly4489Arg
ENST00000685166.1:c.13474G>C	ENSP00000509386.1:p.Gly4492Arg
ENST00000685554.1:c.1825G>C	ENSP00000508640.1:p.Gly609Arg
ENST00000685982.1:c.73G>C	ENSP00000508613.1:p.Gly25Arg
ENST00000691986.1:c.73G>C	ENSP00000509196.1:p.Gly25Arg
ENST00000692637.1:c.13462G>C	ENSP00000509666.1:p.Gly4488Arg
ENST00000692841.1:c.4944G>C	ENSP00000508711.1:n.4944G>C
ENST00000692973.1:c.73G>C	ENSP00000508893.1:p.Gly25Arg
ENST00000301067.12:c.13465G>C MANE Select	ENSP00000301067.7:p.Gly4489Arg
ENST00000301067.11:c.13465G>C	ENSP00000301067.7:p.Gly4489Arg
ENST00000552391.1:n.165G>C
NM_003482.3:c.13465G>C	NP_003473.3:p.Gly4489Arg
XM_005269162.3:c.13465G>C	XP_005269219.1:p.Gly4489Arg
XM_006719614.2:c.13474G>C	XP_006719677.1:p.Gly4492Arg
XM_006719616.2:c.13462G>C	XP_006719679.1:p.Gly4488Arg
XM_011538770.1:c.13474G>C	XP_011537072.1:p.Gly4492Arg
XM_011538771.1:c.13471G>C	XP_011537073.1:p.Gly4491Arg
XM_011538772.1:c.13465G>C	XP_011537074.1:p.Gly4489Arg
XM_011538773.1:c.13462G>C	XP_011537075.1:p.Gly4488Arg
XM_011538774.1:c.13453G>C	XP_011537076.1:p.Gly4485Arg
XM_011538775.1:c.13474G>C	XP_011537077.1:p.Gly4492Arg
XM_011538776.1:c.13381G>C	XP_011537078.1:p.Gly4461Arg
XR_944740.1:n.15794G>C
XM_005269162.4:c.13465G>C	XP_005269219.1:p.Gly4489Arg
XM_006719614.4:c.13474G>C	XP_006719677.1:p.Gly4492Arg
XM_006719616.3:c.13462G>C	XP_006719679.1:p.Gly4488Arg
XM_011538770.2:c.13474G>C	XP_011537072.1:p.Gly4492Arg
XM_011538771.2:c.13471G>C	XP_011537073.1:p.Gly4491Arg
XM_011538772.2:c.13465G>C	XP_011537074.1:p.Gly4489Arg
XM_011538773.2:c.13462G>C	XP_011537075.1:p.Gly4488Arg
XM_011538774.2:c.13453G>C	XP_011537076.1:p.Gly4485Arg
XM_011538776.2:c.13381G>C	XP_011537078.1:p.Gly4461Arg
XR_001748874.1:n.14783G>C
NM_003482.4:c.13465G>C MANE Select	NP_003473.3:p.Gly4489Arg