Canonical Allele Identifier: CA479521051

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49416388T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022605T>C , CM000674.2:g.49022605T>C	GRCh38
NC_000012.11:g.49416388T>C , CM000674.1:g.49416388T>C	GRCh37
NC_000012.10:g.47702655T>C	NCBI36
NG_027827.1:g.37720A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.293A>G
ENST00000681974.1:n.995A>G
ENST00000682693.1:n.1957A>G
ENST00000682886.1:n.493A>G
ENST00000683543.2:c.16371A>G	ENSP00000506726.1:p.Lys5457=
ENST00000683988.1:c.294A>G	ENSP00000506939.1:p.Lys98=
ENST00000684428.1:c.858A>G	ENSP00000507433.1:p.Lys286=
ENST00000684755.1:n.906A>G
ENST00000685024.1:c.1477A>G
ENST00000685166.1:c.16332A>G	ENSP00000509386.1:p.Lys5444=
ENST00000688411.1:c.800A>G	ENSP00000510146.1:n.800A>G
ENST00000691932.1:c.324A>G	ENSP00000509037.1:p.Lys108=
ENST00000692637.1:c.16320A>G	ENSP00000509666.1:p.Lys5440=
ENST00000301067.12:c.16323A>G MANE Select	ENSP00000301067.7:p.Lys5441=
ENST00000301067.11:c.16323A>G	ENSP00000301067.7:p.Lys5441=
ENST00000526209.1:c.366A>G	ENSP00000435714.1:p.Lys122=
NM_003482.3:c.16323A>G	NP_003473.3:p.Lys5441=
XM_005269162.3:c.16323A>G	XP_005269219.1:p.Lys5441=
XM_006719614.2:c.16332A>G	XP_006719677.1:p.Lys5444=
XM_006719616.2:c.16320A>G	XP_006719679.1:p.Lys5440=
XM_011538770.1:c.16380A>G	XP_011537072.1:p.Lys5460=
XM_011538771.1:c.16377A>G	XP_011537073.1:p.Lys5459=
XM_011538772.1:c.16371A>G	XP_011537074.1:p.Lys5457=
XM_011538773.1:c.16368A>G	XP_011537075.1:p.Lys5456=
XM_011538774.1:c.16359A>G	XP_011537076.1:p.Lys5453=
XM_011538775.1:c.16314A>G	XP_011537077.1:p.Lys5438=
XM_011538776.1:c.16287A>G	XP_011537078.1:p.Lys5429=
XM_005269162.4:c.16323A>G	XP_005269219.1:p.Lys5441=
XM_006719614.4:c.16332A>G	XP_006719677.1:p.Lys5444=
XM_006719616.3:c.16320A>G	XP_006719679.1:p.Lys5440=
XM_011538770.2:c.16380A>G	XP_011537072.1:p.Lys5460=
XM_011538771.2:c.16377A>G	XP_011537073.1:p.Lys5459=
XM_011538772.2:c.16371A>G	XP_011537074.1:p.Lys5457=
XM_011538773.2:c.16368A>G	XP_011537075.1:p.Lys5456=
XM_011538774.2:c.16359A>G	XP_011537076.1:p.Lys5453=
XM_011538776.2:c.16287A>G	XP_011537078.1:p.Lys5429=
XR_001748874.1:n.16500A>G
NM_003482.4:c.16323A>G MANE Select	NP_003473.3:p.Lys5441=