Canonical Allele Identifier: CA384627375

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49042247-G-A
• COSMIC: COSM4384733 ; COSM4384734
• MyVariant Identifiers: chr12:g.49436030G>A (hg19) ; chr12:g.49042247G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042247G>A , CM000674.2:g.49042247G>A	GRCh38
NC_000012.11:g.49436030G>A , CM000674.1:g.49436030G>A	GRCh37
NC_000012.10:g.47722297G>A	NCBI36
NG_027827.1:g.18078C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.742C>T
ENST00000683543.2:c.5951C>T	ENSP00000506726.1:p.Pro1984Leu
ENST00000685166.1:c.5960C>T	ENSP00000509386.1:p.Pro1987Leu
ENST00000689060.1:c.63C>T
ENST00000689944.1:c.63C>T
ENST00000692637.1:c.5948C>T	ENSP00000509666.1:p.Pro1983Leu
ENST00000301067.12:c.5951C>T MANE Select	ENSP00000301067.7:p.Pro1984Leu
ENST00000301067.11:c.5951C>T	ENSP00000301067.7:p.Pro1984Leu
NM_003482.3:c.5951C>T	NP_003473.3:p.Pro1984Leu
XM_005269162.3:c.5951C>T	XP_005269219.1:p.Pro1984Leu
XM_006719614.2:c.5960C>T	XP_006719677.1:p.Pro1987Leu
XM_006719616.2:c.5948C>T	XP_006719679.1:p.Pro1983Leu
XM_011538770.1:c.5960C>T	XP_011537072.1:p.Pro1987Leu
XM_011538771.1:c.5957C>T	XP_011537073.1:p.Pro1986Leu
XM_011538772.1:c.5951C>T	XP_011537074.1:p.Pro1984Leu
XM_011538773.1:c.5948C>T	XP_011537075.1:p.Pro1983Leu
XM_011538774.1:c.5939C>T	XP_011537076.1:p.Pro1980Leu
XM_011538775.1:c.5960C>T	XP_011537077.1:p.Pro1987Leu
XM_011538776.1:c.5960C>T	XP_011537078.1:p.Pro1987Leu
XR_944740.1:n.8280C>T
XM_005269162.4:c.5951C>T	XP_005269219.1:p.Pro1984Leu
XM_006719614.4:c.5960C>T	XP_006719677.1:p.Pro1987Leu
XM_006719616.3:c.5948C>T	XP_006719679.1:p.Pro1983Leu
XM_011538770.2:c.5960C>T	XP_011537072.1:p.Pro1987Leu
XM_011538771.2:c.5957C>T	XP_011537073.1:p.Pro1986Leu
XM_011538772.2:c.5951C>T	XP_011537074.1:p.Pro1984Leu
XM_011538773.2:c.5948C>T	XP_011537075.1:p.Pro1983Leu
XM_011538774.2:c.5939C>T	XP_011537076.1:p.Pro1980Leu
XM_011538776.2:c.5960C>T	XP_011537078.1:p.Pro1987Leu
XR_001748874.1:n.7269C>T
NM_003482.4:c.5951C>T MANE Select	NP_003473.3:p.Pro1984Leu