Canonical Allele Identifier: CA479511681

Gene: KMT2D

Linked Data

• gnomAD v4: 12-49042120-A-T
• MyVariant Identifiers: chr12:g.49435903A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042120A>T , CM000674.2:g.49042120A>T	GRCh38
NC_000012.11:g.49435903A>T , CM000674.1:g.49435903A>T	GRCh37
NC_000012.10:g.47722170A>T	NCBI36
NG_027827.1:g.18205T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.869T>A
ENST00000683543.2:c.6078T>A	ENSP00000506726.1:p.Ile2026=
ENST00000685166.1:c.6087T>A	ENSP00000509386.1:p.Ile2029=
ENST00000689060.1:c.190T>A
ENST00000689944.1:c.190T>A
ENST00000692637.1:c.6075T>A	ENSP00000509666.1:p.Ile2025=
ENST00000301067.12:c.6078T>A MANE Select	ENSP00000301067.7:p.Ile2026=
ENST00000301067.11:c.6078T>A	ENSP00000301067.7:p.Ile2026=
NM_003482.3:c.6078T>A	NP_003473.3:p.Ile2026=
XM_005269162.3:c.6078T>A	XP_005269219.1:p.Ile2026=
XM_006719614.2:c.6087T>A	XP_006719677.1:p.Ile2029=
XM_006719616.2:c.6075T>A	XP_006719679.1:p.Ile2025=
XM_011538770.1:c.6087T>A	XP_011537072.1:p.Ile2029=
XM_011538771.1:c.6084T>A	XP_011537073.1:p.Ile2028=
XM_011538772.1:c.6078T>A	XP_011537074.1:p.Ile2026=
XM_011538773.1:c.6075T>A	XP_011537075.1:p.Ile2025=
XM_011538774.1:c.6066T>A	XP_011537076.1:p.Ile2022=
XM_011538775.1:c.6087T>A	XP_011537077.1:p.Ile2029=
XM_011538776.1:c.6087T>A	XP_011537078.1:p.Ile2029=
XR_944740.1:n.8407T>A
XM_005269162.4:c.6078T>A	XP_005269219.1:p.Ile2026=
XM_006719614.4:c.6087T>A	XP_006719677.1:p.Ile2029=
XM_006719616.3:c.6075T>A	XP_006719679.1:p.Ile2025=
XM_011538770.2:c.6087T>A	XP_011537072.1:p.Ile2029=
XM_011538771.2:c.6084T>A	XP_011537073.1:p.Ile2028=
XM_011538772.2:c.6078T>A	XP_011537074.1:p.Ile2026=
XM_011538773.2:c.6075T>A	XP_011537075.1:p.Ile2025=
XM_011538774.2:c.6066T>A	XP_011537076.1:p.Ile2022=
XM_011538776.2:c.6087T>A	XP_011537078.1:p.Ile2029=
XR_001748874.1:n.7396T>A
NM_003482.4:c.6078T>A MANE Select	NP_003473.3:p.Ile2026=