Canonical Allele Identifier: CA384677495

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 1307532
• ClinVar RCV Id: RCV001760950
• dbSNP Id: rs2137706291
• COSMIC: COSM144604
• MyVariant Identifiers: chr12:g.49416401T>C (hg19) ; chr12:g.49022618T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022618T>C , CM000674.2:g.49022618T>C	GRCh38
NC_000012.11:g.49416401T>C , CM000674.1:g.49416401T>C	GRCh37
NC_000012.10:g.47702668T>C	NCBI36
NG_027827.1:g.37707A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.280A>G
ENST00000681974.1:n.982A>G
ENST00000682693.1:n.1944A>G
ENST00000682886.1:n.480A>G
ENST00000683543.2:c.16358A>G	ENSP00000506726.1:p.Asn5453Ser
ENST00000683988.1:c.281A>G	ENSP00000506939.1:p.Asn94Ser
ENST00000684428.1:c.845A>G	ENSP00000507433.1:p.Asn282Ser
ENST00000684755.1:n.893A>G
ENST00000685024.1:c.1464A>G
ENST00000685166.1:c.16319A>G	ENSP00000509386.1:p.Asn5440Ser
ENST00000688411.1:c.787A>G	ENSP00000510146.1:n.787A>G
ENST00000691932.1:c.311A>G	ENSP00000509037.1:p.Asn104Ser
ENST00000692637.1:c.16307A>G	ENSP00000509666.1:p.Asn5436Ser
ENST00000301067.12:c.16310A>G MANE Select	ENSP00000301067.7:p.Asn5437Ser
ENST00000301067.11:c.16310A>G	ENSP00000301067.7:p.Asn5437Ser
ENST00000526209.1:c.353A>G	ENSP00000435714.1:p.Asn118Ser
NM_003482.3:c.16310A>G	NP_003473.3:p.Asn5437Ser
XM_005269162.3:c.16310A>G	XP_005269219.1:p.Asn5437Ser
XM_006719614.2:c.16319A>G	XP_006719677.1:p.Asn5440Ser
XM_006719616.2:c.16307A>G	XP_006719679.1:p.Asn5436Ser
XM_011538770.1:c.16367A>G	XP_011537072.1:p.Asn5456Ser
XM_011538771.1:c.16364A>G	XP_011537073.1:p.Asn5455Ser
XM_011538772.1:c.16358A>G	XP_011537074.1:p.Asn5453Ser
XM_011538773.1:c.16355A>G	XP_011537075.1:p.Asn5452Ser
XM_011538774.1:c.16346A>G	XP_011537076.1:p.Asn5449Ser
XM_011538775.1:c.16301A>G	XP_011537077.1:p.Asn5434Ser
XM_011538776.1:c.16274A>G	XP_011537078.1:p.Asn5425Ser
XM_005269162.4:c.16310A>G	XP_005269219.1:p.Asn5437Ser
XM_006719614.4:c.16319A>G	XP_006719677.1:p.Asn5440Ser
XM_006719616.3:c.16307A>G	XP_006719679.1:p.Asn5436Ser
XM_011538770.2:c.16367A>G	XP_011537072.1:p.Asn5456Ser
XM_011538771.2:c.16364A>G	XP_011537073.1:p.Asn5455Ser
XM_011538772.2:c.16358A>G	XP_011537074.1:p.Asn5453Ser
XM_011538773.2:c.16355A>G	XP_011537075.1:p.Asn5452Ser
XM_011538774.2:c.16346A>G	XP_011537076.1:p.Asn5449Ser
XM_011538776.2:c.16274A>G	XP_011537078.1:p.Asn5425Ser
XR_001748874.1:n.16487A>G
NM_003482.4:c.16310A>G MANE Select	NP_003473.3:p.Asn5437Ser