Canonical Allele Identifier: CA6545482

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 2427992
• ClinVar RCV Id: RCV003116963
• dbSNP Id: rs775870851
• ExAC: 12:49418659 A / C
• gnomAD v2: 12-49418659-A-C
• gnomAD v4: 12-49024876-A-C
• MyVariant Identifiers: chr12:g.49418659A>C (hg19) ; chr12:g.49024876A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024876A>C , CM000674.2:g.49024876A>C	GRCh38
NC_000012.11:g.49418659A>C , CM000674.1:g.49418659A>C	GRCh37
NC_000012.10:g.47704926A>C	NCBI36
NG_027827.1:g.35449T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.527T>G
ENST00000683543.2:c.15855T>G	ENSP00000506726.1:p.Pro5285=
ENST00000683863.1:n.1570T>G
ENST00000684428.1:c.390T>G	ENSP00000507433.1:p.Pro130=
ENST00000684755.1:n.390T>G
ENST00000685024.1:c.980T>G
ENST00000685166.1:c.15864T>G	ENSP00000509386.1:p.Pro5288=
ENST00000688411.1:c.332T>G	ENSP00000510146.1:n.332T>G
ENST00000691463.1:c.1241T>G	ENSP00000510624.1:n.1241T>G
ENST00000692637.1:c.15852T>G	ENSP00000509666.1:p.Pro5284=
ENST00000301067.12:c.15855T>G MANE Select	ENSP00000301067.7:p.Pro5285=
ENST00000301067.11:c.15855T>G	ENSP00000301067.7:p.Pro5285=
NM_003482.3:c.15855T>G	NP_003473.3:p.Pro5285=
XM_005269162.3:c.15855T>G	XP_005269219.1:p.Pro5285=
XM_006719614.2:c.15864T>G	XP_006719677.1:p.Pro5288=
XM_006719616.2:c.15852T>G	XP_006719679.1:p.Pro5284=
XM_011538770.1:c.15864T>G	XP_011537072.1:p.Pro5288=
XM_011538771.1:c.15861T>G	XP_011537073.1:p.Pro5287=
XM_011538772.1:c.15855T>G	XP_011537074.1:p.Pro5285=
XM_011538773.1:c.15852T>G	XP_011537075.1:p.Pro5284=
XM_011538774.1:c.15843T>G	XP_011537076.1:p.Pro5281=
XM_011538775.1:c.15798T>G	XP_011537077.1:p.Pro5266=
XM_011538776.1:c.15771T>G	XP_011537078.1:p.Pro5257=
XR_944740.1:n.17043T>G
XM_005269162.4:c.15855T>G	XP_005269219.1:p.Pro5285=
XM_006719614.4:c.15864T>G	XP_006719677.1:p.Pro5288=
XM_006719616.3:c.15852T>G	XP_006719679.1:p.Pro5284=
XM_011538770.2:c.15864T>G	XP_011537072.1:p.Pro5288=
XM_011538771.2:c.15861T>G	XP_011537073.1:p.Pro5287=
XM_011538772.2:c.15855T>G	XP_011537074.1:p.Pro5285=
XM_011538773.2:c.15852T>G	XP_011537075.1:p.Pro5284=
XM_011538774.2:c.15843T>G	XP_011537076.1:p.Pro5281=
XM_011538776.2:c.15771T>G	XP_011537078.1:p.Pro5257=
XR_001748874.1:n.16032T>G
NM_003482.4:c.15855T>G MANE Select	NP_003473.3:p.Pro5285=