Canonical Allele Identifier: CA384701705

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 523017
• ClinVar RCV Id: RCV000626219 ; RCV001388480
• dbSNP Id: rs1555187117
• COSMIC: COSM5732585 ; COSM5732586
• MyVariant Identifiers: chr12:g.49424405G>C (hg19) ; chr12:g.49030622G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030622G>C , CM000674.2:g.49030622G>C	GRCh38
NC_000012.11:g.49424405G>C , CM000674.1:g.49424405G>C	GRCh37
NC_000012.10:g.47710672G>C	NCBI36
NG_027827.1:g.29703C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.518C>G
ENST00000683543.2:c.13818C>G	ENSP00000506726.1:p.Tyr4606Ter
ENST00000685166.1:c.13827C>G	ENSP00000509386.1:p.Tyr4609Ter
ENST00000685979.1:c.147C>G	ENSP00000508906.1:p.Tyr49Ter
ENST00000685982.1:c.285C>G	ENSP00000508613.1:p.Tyr95Ter
ENST00000686564.1:c.147C>G	ENSP00000509290.1:p.Tyr49Ter
ENST00000691986.1:c.139-183C>G	ENSP00000509196.1:n.139-183C>G
ENST00000692637.1:c.13815C>G	ENSP00000509666.1:p.Tyr4605Ter
ENST00000692973.1:c.419C>G	ENSP00000508893.1:n.419C>G
ENST00000301067.12:c.13818C>G MANE Select	ENSP00000301067.7:p.Tyr4606Ter
ENST00000301067.11:c.13818C>G	ENSP00000301067.7:p.Tyr4606Ter
ENST00000552391.1:n.518C>G
NM_003482.3:c.13818C>G	NP_003473.3:p.Tyr4606Ter
XM_005269162.3:c.13818C>G	XP_005269219.1:p.Tyr4606Ter
XM_006719614.2:c.13827C>G	XP_006719677.1:p.Tyr4609Ter
XM_006719616.2:c.13815C>G	XP_006719679.1:p.Tyr4605Ter
XM_011538770.1:c.13827C>G	XP_011537072.1:p.Tyr4609Ter
XM_011538771.1:c.13824C>G	XP_011537073.1:p.Tyr4608Ter
XM_011538772.1:c.13818C>G	XP_011537074.1:p.Tyr4606Ter
XM_011538773.1:c.13815C>G	XP_011537075.1:p.Tyr4605Ter
XM_011538774.1:c.13806C>G	XP_011537076.1:p.Tyr4602Ter
XM_011538775.1:c.13827C>G	XP_011537077.1:p.Tyr4609Ter
XM_011538776.1:c.13734C>G	XP_011537078.1:p.Tyr4578Ter
XR_944740.1:n.16147C>G
XM_005269162.4:c.13818C>G	XP_005269219.1:p.Tyr4606Ter
XM_006719614.4:c.13827C>G	XP_006719677.1:p.Tyr4609Ter
XM_006719616.3:c.13815C>G	XP_006719679.1:p.Tyr4605Ter
XM_011538770.2:c.13827C>G	XP_011537072.1:p.Tyr4609Ter
XM_011538771.2:c.13824C>G	XP_011537073.1:p.Tyr4608Ter
XM_011538772.2:c.13818C>G	XP_011537074.1:p.Tyr4606Ter
XM_011538773.2:c.13815C>G	XP_011537075.1:p.Tyr4605Ter
XM_011538774.2:c.13806C>G	XP_011537076.1:p.Tyr4602Ter
XM_011538776.2:c.13734C>G	XP_011537078.1:p.Tyr4578Ter
XR_001748874.1:n.15136C>G
NM_003482.4:c.13818C>G MANE Select	NP_003473.3:p.Tyr4606Ter