Canonical Allele Identifier: CA384628177

Gene: KMT2D

Linked Data

• dbSNP Id: rs1023285743
• gnomAD v4: 12-49042600-G-C
• MyVariant Identifiers: chr12:g.49436383G>C (hg19) ; chr12:g.49042600G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042600G>C , CM000674.2:g.49042600G>C	GRCh38
NC_000012.11:g.49436383G>C , CM000674.1:g.49436383G>C	GRCh37
NC_000012.10:g.47722650G>C	NCBI36
NG_027827.1:g.17725C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.640C>G
ENST00000683543.2:c.5828C>G	ENSP00000506726.1:p.Ser1943Cys
ENST00000685166.1:c.5837C>G	ENSP00000509386.1:p.Ser1946Cys
ENST00000688095.1:c.1777C>G	ENSP00000510007.1:n.1777C>G
ENST00000692637.1:c.5825C>G	ENSP00000509666.1:p.Ser1942Cys
ENST00000301067.12:c.5828C>G MANE Select	ENSP00000301067.7:p.Ser1943Cys
ENST00000301067.11:c.5828C>G	ENSP00000301067.7:p.Ser1943Cys
NM_003482.3:c.5828C>G	NP_003473.3:p.Ser1943Cys
XM_005269162.3:c.5828C>G	XP_005269219.1:p.Ser1943Cys
XM_006719614.2:c.5837C>G	XP_006719677.1:p.Ser1946Cys
XM_006719616.2:c.5825C>G	XP_006719679.1:p.Ser1942Cys
XM_011538770.1:c.5837C>G	XP_011537072.1:p.Ser1946Cys
XM_011538771.1:c.5834C>G	XP_011537073.1:p.Ser1945Cys
XM_011538772.1:c.5828C>G	XP_011537074.1:p.Ser1943Cys
XM_011538773.1:c.5825C>G	XP_011537075.1:p.Ser1942Cys
XM_011538774.1:c.5837C>G	XP_011537076.1:p.Ser1946Cys
XM_011538775.1:c.5837C>G	XP_011537077.1:p.Ser1946Cys
XM_011538776.1:c.5837C>G	XP_011537078.1:p.Ser1946Cys
XR_944740.1:n.8157C>G
XM_005269162.4:c.5828C>G	XP_005269219.1:p.Ser1943Cys
XM_006719614.4:c.5837C>G	XP_006719677.1:p.Ser1946Cys
XM_006719616.3:c.5825C>G	XP_006719679.1:p.Ser1942Cys
XM_011538770.2:c.5837C>G	XP_011537072.1:p.Ser1946Cys
XM_011538771.2:c.5834C>G	XP_011537073.1:p.Ser1945Cys
XM_011538772.2:c.5828C>G	XP_011537074.1:p.Ser1943Cys
XM_011538773.2:c.5825C>G	XP_011537075.1:p.Ser1942Cys
XM_011538774.2:c.5837C>G	XP_011537076.1:p.Ser1946Cys
XM_011538776.2:c.5837C>G	XP_011537078.1:p.Ser1946Cys
XR_001748874.1:n.7146C>G
NM_003482.4:c.5828C>G MANE Select	NP_003473.3:p.Ser1943Cys