Canonical Allele Identifier: CA384726218

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 435673
• ClinVar RCV Id: RCV001254328
• dbSNP Id: rs1555189207
• MyVariant Identifiers: chr12:g.49427704T>C (hg19) ; chr12:g.49033921T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033921T>C , CM000674.2:g.49033921T>C	GRCh38
NC_000012.11:g.49427704T>C , CM000674.1:g.49427704T>C	GRCh37
NC_000012.10:g.47713971T>C	NCBI36
NG_027827.1:g.26404A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.10784A>G	ENSP00000506726.1:p.Tyr3595Cys
ENST00000685166.1:c.10793A>G	ENSP00000509386.1:p.Tyr3598Cys
ENST00000685554.1:c.344A>G	ENSP00000508640.1:p.Tyr115Cys
ENST00000687201.1:c.2363A>G	ENSP00000510037.1:p.Tyr788Cys
ENST00000692637.1:c.10781A>G	ENSP00000509666.1:p.Tyr3594Cys
ENST00000692841.1:c.2263A>G	ENSP00000508711.1:n.2263A>G
ENST00000301067.12:c.10784A>G MANE Select	ENSP00000301067.7:p.Tyr3595Cys
ENST00000301067.11:c.10784A>G	ENSP00000301067.7:p.Tyr3595Cys
NM_003482.3:c.10784A>G	NP_003473.3:p.Tyr3595Cys
XM_005269162.3:c.10784A>G	XP_005269219.1:p.Tyr3595Cys
XM_006719614.2:c.10793A>G	XP_006719677.1:p.Tyr3598Cys
XM_006719616.2:c.10781A>G	XP_006719679.1:p.Tyr3594Cys
XM_011538770.1:c.10793A>G	XP_011537072.1:p.Tyr3598Cys
XM_011538771.1:c.10790A>G	XP_011537073.1:p.Tyr3597Cys
XM_011538772.1:c.10784A>G	XP_011537074.1:p.Tyr3595Cys
XM_011538773.1:c.10781A>G	XP_011537075.1:p.Tyr3594Cys
XM_011538774.1:c.10772A>G	XP_011537076.1:p.Tyr3591Cys
XM_011538775.1:c.10793A>G	XP_011537077.1:p.Tyr3598Cys
XM_011538776.1:c.10700A>G	XP_011537078.1:p.Tyr3567Cys
XR_944740.1:n.13113A>G
XM_005269162.4:c.10784A>G	XP_005269219.1:p.Tyr3595Cys
XM_006719614.4:c.10793A>G	XP_006719677.1:p.Tyr3598Cys
XM_006719616.3:c.10781A>G	XP_006719679.1:p.Tyr3594Cys
XM_011538770.2:c.10793A>G	XP_011537072.1:p.Tyr3598Cys
XM_011538771.2:c.10790A>G	XP_011537073.1:p.Tyr3597Cys
XM_011538772.2:c.10784A>G	XP_011537074.1:p.Tyr3595Cys
XM_011538773.2:c.10781A>G	XP_011537075.1:p.Tyr3594Cys
XM_011538774.2:c.10772A>G	XP_011537076.1:p.Tyr3591Cys
XM_011538776.2:c.10700A>G	XP_011537078.1:p.Tyr3567Cys
XR_001748874.1:n.12102A>G
NM_003482.4:c.10784A>G MANE Select	NP_003473.3:p.Tyr3595Cys