Canonical Allele Identifier: CA384716588

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 2890942
• ClinVar RCV Id: RCV003752988
• dbSNP Id: rs1204083573
• gnomAD v2: 12-49426801-G-C
• gnomAD v3: 12-49033018-G-C
• gnomAD v4: 12-49033018-G-C
• MyVariant Identifiers: chr12:g.49426801G>C (hg19) ; chr12:g.49033018G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49033018G>C , CM000674.2:g.49033018G>C	GRCh38
NC_000012.11:g.49426801G>C , CM000674.1:g.49426801G>C	GRCh37
NC_000012.10:g.47713068G>C	NCBI36
NG_027827.1:g.27307C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.11687C>G	ENSP00000506726.1:p.Ser3896Cys
ENST00000685166.1:c.11696C>G	ENSP00000509386.1:p.Ser3899Cys
ENST00000685554.1:c.1247C>G	ENSP00000508640.1:p.Ser416Cys
ENST00000687201.1:c.3266C>G	ENSP00000510037.1:p.Ser1089Cys
ENST00000692637.1:c.11684C>G	ENSP00000509666.1:p.Ser3895Cys
ENST00000692841.1:c.3166C>G	ENSP00000508711.1:n.3166C>G
ENST00000301067.12:c.11687C>G MANE Select	ENSP00000301067.7:p.Ser3896Cys
ENST00000301067.11:c.11687C>G	ENSP00000301067.7:p.Ser3896Cys
NM_003482.3:c.11687C>G	NP_003473.3:p.Ser3896Cys
XM_005269162.3:c.11687C>G	XP_005269219.1:p.Ser3896Cys
XM_006719614.2:c.11696C>G	XP_006719677.1:p.Ser3899Cys
XM_006719616.2:c.11684C>G	XP_006719679.1:p.Ser3895Cys
XM_011538770.1:c.11696C>G	XP_011537072.1:p.Ser3899Cys
XM_011538771.1:c.11693C>G	XP_011537073.1:p.Ser3898Cys
XM_011538772.1:c.11687C>G	XP_011537074.1:p.Ser3896Cys
XM_011538773.1:c.11684C>G	XP_011537075.1:p.Ser3895Cys
XM_011538774.1:c.11675C>G	XP_011537076.1:p.Ser3892Cys
XM_011538775.1:c.11696C>G	XP_011537077.1:p.Ser3899Cys
XM_011538776.1:c.11603C>G	XP_011537078.1:p.Ser3868Cys
XR_944740.1:n.14016C>G
XM_005269162.4:c.11687C>G	XP_005269219.1:p.Ser3896Cys
XM_006719614.4:c.11696C>G	XP_006719677.1:p.Ser3899Cys
XM_006719616.3:c.11684C>G	XP_006719679.1:p.Ser3895Cys
XM_011538770.2:c.11696C>G	XP_011537072.1:p.Ser3899Cys
XM_011538771.2:c.11693C>G	XP_011537073.1:p.Ser3898Cys
XM_011538772.2:c.11687C>G	XP_011537074.1:p.Ser3896Cys
XM_011538773.2:c.11684C>G	XP_011537075.1:p.Ser3895Cys
XM_011538774.2:c.11675C>G	XP_011537076.1:p.Ser3892Cys
XM_011538776.2:c.11603C>G	XP_011537078.1:p.Ser3868Cys
XR_001748874.1:n.13005C>G
NM_003482.4:c.11687C>G MANE Select	NP_003473.3:p.Ser3896Cys