Canonical Allele Identifier: CA384703081

Gene: KMT2D

Linked Data

• dbSNP Id: rs1459578307
• gnomAD v2: 12-49424686-T-A
• gnomAD v4: 12-49030903-T-A
• MyVariant Identifiers: chr12:g.49424686T>A (hg19) ; chr12:g.49030903T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49030903T>A , CM000674.2:g.49030903T>A	GRCh38
NC_000012.11:g.49424686T>A , CM000674.1:g.49424686T>A	GRCh37
NC_000012.10:g.47710953T>A	NCBI36
NG_027827.1:g.29422A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552391.2:n.361A>T
ENST00000683543.2:c.13661A>T	ENSP00000506726.1:p.Gln4554Leu
ENST00000685166.1:c.13670A>T	ENSP00000509386.1:p.Gln4557Leu
ENST00000685982.1:c.139-135A>T	ENSP00000508613.1:n.139-135A>T
ENST00000691986.1:c.138+272A>T	ENSP00000509196.1:n.138+272A>T
ENST00000692637.1:c.13658A>T	ENSP00000509666.1:p.Gln4553Leu
ENST00000692973.1:c.262A>T	ENSP00000508893.1:n.262A>T
ENST00000301067.12:c.13661A>T MANE Select	ENSP00000301067.7:p.Gln4554Leu
ENST00000301067.11:c.13661A>T	ENSP00000301067.7:p.Gln4554Leu
ENST00000552391.1:n.361A>T
NM_003482.3:c.13661A>T	NP_003473.3:p.Gln4554Leu
XM_005269162.3:c.13661A>T	XP_005269219.1:p.Gln4554Leu
XM_006719614.2:c.13670A>T	XP_006719677.1:p.Gln4557Leu
XM_006719616.2:c.13658A>T	XP_006719679.1:p.Gln4553Leu
XM_011538770.1:c.13670A>T	XP_011537072.1:p.Gln4557Leu
XM_011538771.1:c.13667A>T	XP_011537073.1:p.Gln4556Leu
XM_011538772.1:c.13661A>T	XP_011537074.1:p.Gln4554Leu
XM_011538773.1:c.13658A>T	XP_011537075.1:p.Gln4553Leu
XM_011538774.1:c.13649A>T	XP_011537076.1:p.Gln4550Leu
XM_011538775.1:c.13670A>T	XP_011537077.1:p.Gln4557Leu
XM_011538776.1:c.13577A>T	XP_011537078.1:p.Gln4526Leu
XR_944740.1:n.15990A>T
XM_005269162.4:c.13661A>T	XP_005269219.1:p.Gln4554Leu
XM_006719614.4:c.13670A>T	XP_006719677.1:p.Gln4557Leu
XM_006719616.3:c.13658A>T	XP_006719679.1:p.Gln4553Leu
XM_011538770.2:c.13670A>T	XP_011537072.1:p.Gln4557Leu
XM_011538771.2:c.13667A>T	XP_011537073.1:p.Gln4556Leu
XM_011538772.2:c.13661A>T	XP_011537074.1:p.Gln4554Leu
XM_011538773.2:c.13658A>T	XP_011537075.1:p.Gln4553Leu
XM_011538774.2:c.13649A>T	XP_011537076.1:p.Gln4550Leu
XM_011538776.2:c.13577A>T	XP_011537078.1:p.Gln4526Leu
XR_001748874.1:n.14979A>T
NM_003482.4:c.13661A>T MANE Select	NP_003473.3:p.Gln4554Leu