Canonical Allele Identifier: CA384677590

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706359
• MyVariant Identifiers: chr12:g.49416413T>A (hg19) ; chr12:g.49022630T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022630T>A , CM000674.2:g.49022630T>A	GRCh38
NC_000012.11:g.49416413T>A , CM000674.1:g.49416413T>A	GRCh37
NC_000012.10:g.47702680T>A	NCBI36
NG_027827.1:g.37695A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.268A>T
ENST00000681974.1:n.970A>T
ENST00000682693.1:n.1932A>T
ENST00000682886.1:n.468A>T
ENST00000683543.2:c.16346A>T	ENSP00000506726.1:p.Asn5449Ile
ENST00000683988.1:c.269A>T	ENSP00000506939.1:p.Asn90Ile
ENST00000684428.1:c.833A>T	ENSP00000507433.1:p.Asn278Ile
ENST00000684755.1:n.881A>T
ENST00000685024.1:c.1452A>T
ENST00000685166.1:c.16307A>T	ENSP00000509386.1:p.Asn5436Ile
ENST00000688411.1:c.775A>T	ENSP00000510146.1:n.775A>T
ENST00000691932.1:c.299A>T	ENSP00000509037.1:p.Asn100Ile
ENST00000692637.1:c.16295A>T	ENSP00000509666.1:p.Asn5432Ile
ENST00000301067.12:c.16298A>T MANE Select	ENSP00000301067.7:p.Asn5433Ile
ENST00000301067.11:c.16298A>T	ENSP00000301067.7:p.Asn5433Ile
ENST00000526209.1:c.341A>T	ENSP00000435714.1:p.Asn114Ile
NM_003482.3:c.16298A>T	NP_003473.3:p.Asn5433Ile
XM_005269162.3:c.16298A>T	XP_005269219.1:p.Asn5433Ile
XM_006719614.2:c.16307A>T	XP_006719677.1:p.Asn5436Ile
XM_006719616.2:c.16295A>T	XP_006719679.1:p.Asn5432Ile
XM_011538770.1:c.16355A>T	XP_011537072.1:p.Asn5452Ile
XM_011538771.1:c.16352A>T	XP_011537073.1:p.Asn5451Ile
XM_011538772.1:c.16346A>T	XP_011537074.1:p.Asn5449Ile
XM_011538773.1:c.16343A>T	XP_011537075.1:p.Asn5448Ile
XM_011538774.1:c.16334A>T	XP_011537076.1:p.Asn5445Ile
XM_011538775.1:c.16289A>T	XP_011537077.1:p.Asn5430Ile
XM_011538776.1:c.16262A>T	XP_011537078.1:p.Asn5421Ile
XM_005269162.4:c.16298A>T	XP_005269219.1:p.Asn5433Ile
XM_006719614.4:c.16307A>T	XP_006719677.1:p.Asn5436Ile
XM_006719616.3:c.16295A>T	XP_006719679.1:p.Asn5432Ile
XM_011538770.2:c.16355A>T	XP_011537072.1:p.Asn5452Ile
XM_011538771.2:c.16352A>T	XP_011537073.1:p.Asn5451Ile
XM_011538772.2:c.16346A>T	XP_011537074.1:p.Asn5449Ile
XM_011538773.2:c.16343A>T	XP_011537075.1:p.Asn5448Ile
XM_011538774.2:c.16334A>T	XP_011537076.1:p.Asn5445Ile
XM_011538776.2:c.16262A>T	XP_011537078.1:p.Asn5421Ile
XR_001748874.1:n.16475A>T
NM_003482.4:c.16298A>T MANE Select	NP_003473.3:p.Asn5433Ile