Canonical Allele Identifier: CA384677491

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706285
• MyVariant Identifiers: chr12:g.49416400G>C (hg19) ; chr12:g.49022617G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022617G>C , CM000674.2:g.49022617G>C	GRCh38
NC_000012.11:g.49416400G>C , CM000674.1:g.49416400G>C	GRCh37
NC_000012.10:g.47702667G>C	NCBI36
NG_027827.1:g.37708C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.281C>G
ENST00000681974.1:n.983C>G
ENST00000682693.1:n.1945C>G
ENST00000682886.1:n.481C>G
ENST00000683543.2:c.16359C>G	ENSP00000506726.1:p.Asn5453Lys
ENST00000683988.1:c.282C>G	ENSP00000506939.1:p.Asn94Lys
ENST00000684428.1:c.846C>G	ENSP00000507433.1:p.Asn282Lys
ENST00000684755.1:n.894C>G
ENST00000685024.1:c.1465C>G
ENST00000685166.1:c.16320C>G	ENSP00000509386.1:p.Asn5440Lys
ENST00000688411.1:c.788C>G	ENSP00000510146.1:n.788C>G
ENST00000691932.1:c.312C>G	ENSP00000509037.1:p.Asn104Lys
ENST00000692637.1:c.16308C>G	ENSP00000509666.1:p.Asn5436Lys
ENST00000301067.12:c.16311C>G MANE Select	ENSP00000301067.7:p.Asn5437Lys
ENST00000301067.11:c.16311C>G	ENSP00000301067.7:p.Asn5437Lys
ENST00000526209.1:c.354C>G	ENSP00000435714.1:p.Asn118Lys
NM_003482.3:c.16311C>G	NP_003473.3:p.Asn5437Lys
XM_005269162.3:c.16311C>G	XP_005269219.1:p.Asn5437Lys
XM_006719614.2:c.16320C>G	XP_006719677.1:p.Asn5440Lys
XM_006719616.2:c.16308C>G	XP_006719679.1:p.Asn5436Lys
XM_011538770.1:c.16368C>G	XP_011537072.1:p.Asn5456Lys
XM_011538771.1:c.16365C>G	XP_011537073.1:p.Asn5455Lys
XM_011538772.1:c.16359C>G	XP_011537074.1:p.Asn5453Lys
XM_011538773.1:c.16356C>G	XP_011537075.1:p.Asn5452Lys
XM_011538774.1:c.16347C>G	XP_011537076.1:p.Asn5449Lys
XM_011538775.1:c.16302C>G	XP_011537077.1:p.Asn5434Lys
XM_011538776.1:c.16275C>G	XP_011537078.1:p.Asn5425Lys
XM_005269162.4:c.16311C>G	XP_005269219.1:p.Asn5437Lys
XM_006719614.4:c.16320C>G	XP_006719677.1:p.Asn5440Lys
XM_006719616.3:c.16308C>G	XP_006719679.1:p.Asn5436Lys
XM_011538770.2:c.16368C>G	XP_011537072.1:p.Asn5456Lys
XM_011538771.2:c.16365C>G	XP_011537073.1:p.Asn5455Lys
XM_011538772.2:c.16359C>G	XP_011537074.1:p.Asn5453Lys
XM_011538773.2:c.16356C>G	XP_011537075.1:p.Asn5452Lys
XM_011538774.2:c.16347C>G	XP_011537076.1:p.Asn5449Lys
XM_011538776.2:c.16275C>G	XP_011537078.1:p.Asn5425Lys
XR_001748874.1:n.16488C>G
NM_003482.4:c.16311C>G MANE Select	NP_003473.3:p.Asn5437Lys