Canonical Allele Identifier: CA384681880

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49024677-A-G
• COSMIC: COSM5490565 ; COSM5490566
• MyVariant Identifiers: chr12:g.49418460A>G (hg19) ; chr12:g.49024677A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024677A>G , CM000674.2:g.49024677A>G	GRCh38
NC_000012.11:g.49418460A>G , CM000674.1:g.49418460A>G	GRCh37
NC_000012.10:g.47704727A>G	NCBI36
NG_027827.1:g.35648T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.625T>C
ENST00000683543.2:c.15953T>C	ENSP00000506726.1:p.Leu5318Ser
ENST00000683863.1:n.1668T>C
ENST00000684428.1:c.488T>C	ENSP00000507433.1:p.Leu163Ser
ENST00000684755.1:n.488T>C
ENST00000685024.1:c.1107T>C
ENST00000685166.1:c.15962T>C	ENSP00000509386.1:p.Leu5321Ser
ENST00000688411.1:c.430T>C	ENSP00000510146.1:n.430T>C
ENST00000691932.1:c.32T>C	ENSP00000509037.1:p.Leu11Ser
ENST00000692637.1:c.15950T>C	ENSP00000509666.1:p.Leu5317Ser
ENST00000301067.12:c.15953T>C MANE Select	ENSP00000301067.7:p.Leu5318Ser
ENST00000301067.11:c.15953T>C	ENSP00000301067.7:p.Leu5318Ser
NM_003482.3:c.15953T>C	NP_003473.3:p.Leu5318Ser
XM_005269162.3:c.15953T>C	XP_005269219.1:p.Leu5318Ser
XM_006719614.2:c.15962T>C	XP_006719677.1:p.Leu5321Ser
XM_006719616.2:c.15950T>C	XP_006719679.1:p.Leu5317Ser
XM_011538770.1:c.15962T>C	XP_011537072.1:p.Leu5321Ser
XM_011538771.1:c.15959T>C	XP_011537073.1:p.Leu5320Ser
XM_011538772.1:c.15953T>C	XP_011537074.1:p.Leu5318Ser
XM_011538773.1:c.15950T>C	XP_011537075.1:p.Leu5317Ser
XM_011538774.1:c.15941T>C	XP_011537076.1:p.Leu5314Ser
XM_011538775.1:c.15896T>C	XP_011537077.1:p.Leu5299Ser
XM_011538776.1:c.15869T>C	XP_011537078.1:p.Leu5290Ser
XM_005269162.4:c.15953T>C	XP_005269219.1:p.Leu5318Ser
XM_006719614.4:c.15962T>C	XP_006719677.1:p.Leu5321Ser
XM_006719616.3:c.15950T>C	XP_006719679.1:p.Leu5317Ser
XM_011538770.2:c.15962T>C	XP_011537072.1:p.Leu5321Ser
XM_011538771.2:c.15959T>C	XP_011537073.1:p.Leu5320Ser
XM_011538772.2:c.15953T>C	XP_011537074.1:p.Leu5318Ser
XM_011538773.2:c.15950T>C	XP_011537075.1:p.Leu5317Ser
XM_011538774.2:c.15941T>C	XP_011537076.1:p.Leu5314Ser
XM_011538776.2:c.15869T>C	XP_011537078.1:p.Leu5290Ser
XR_001748874.1:n.16130T>C
NM_003482.4:c.15953T>C MANE Select	NP_003473.3:p.Leu5318Ser