Canonical Allele Identifier: CA384675771

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49415852T>C (hg19) ; chr12:g.49022069T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022069T>C , CM000674.2:g.49022069T>C	GRCh38
NC_000012.11:g.49415852T>C , CM000674.1:g.49415852T>C	GRCh37
NC_000012.10:g.47702119T>C	NCBI36
NG_027827.1:g.38256A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.465A>G
ENST00000681974.1:n.1167A>G
ENST00000682693.1:n.2129A>G
ENST00000682886.1:n.901A>G
ENST00000683543.2:c.16543A>G	ENSP00000506726.1:p.Ser5515Gly
ENST00000683988.1:c.466A>G	ENSP00000506939.1:p.Ser156Gly
ENST00000684428.1:c.1088A>G	ENSP00000507433.1:n.1088A>G
ENST00000685024.1:c.1649A>G
ENST00000685166.1:c.16504A>G	ENSP00000509386.1:p.Ser5502Gly
ENST00000691932.1:c.496A>G	ENSP00000509037.1:p.Ser166Gly
ENST00000692637.1:c.16492A>G	ENSP00000509666.1:p.Ser5498Gly
ENST00000301067.12:c.16495A>G MANE Select	ENSP00000301067.7:p.Ser5499Gly
ENST00000301067.11:c.16495A>G	ENSP00000301067.7:p.Ser5499Gly
ENST00000526209.1:c.538A>G	ENSP00000435714.1:p.Ser180Gly
NM_003482.3:c.16495A>G	NP_003473.3:p.Ser5499Gly
XM_005269162.3:c.16495A>G	XP_005269219.1:p.Ser5499Gly
XM_006719614.2:c.16504A>G	XP_006719677.1:p.Ser5502Gly
XM_006719616.2:c.16492A>G	XP_006719679.1:p.Ser5498Gly
XM_011538770.1:c.16552A>G	XP_011537072.1:p.Ser5518Gly
XM_011538771.1:c.16549A>G	XP_011537073.1:p.Ser5517Gly
XM_011538772.1:c.16543A>G	XP_011537074.1:p.Ser5515Gly
XM_011538773.1:c.16540A>G	XP_011537075.1:p.Ser5514Gly
XM_011538774.1:c.16531A>G	XP_011537076.1:p.Ser5511Gly
XM_011538775.1:c.16486A>G	XP_011537077.1:p.Ser5496Gly
XM_011538776.1:c.16459A>G	XP_011537078.1:p.Ser5487Gly
XM_005269162.4:c.16495A>G	XP_005269219.1:p.Ser5499Gly
XM_006719614.4:c.16504A>G	XP_006719677.1:p.Ser5502Gly
XM_006719616.3:c.16492A>G	XP_006719679.1:p.Ser5498Gly
XM_011538770.2:c.16552A>G	XP_011537072.1:p.Ser5518Gly
XM_011538771.2:c.16549A>G	XP_011537073.1:p.Ser5517Gly
XM_011538772.2:c.16543A>G	XP_011537074.1:p.Ser5515Gly
XM_011538773.2:c.16540A>G	XP_011537075.1:p.Ser5514Gly
XM_011538774.2:c.16531A>G	XP_011537076.1:p.Ser5511Gly
XM_011538776.2:c.16459A>G	XP_011537078.1:p.Ser5487Gly
XR_001748874.1:n.16672A>G
NM_003482.4:c.16495A>G MANE Select	NP_003473.3:p.Ser5499Gly