Canonical Allele Identifier: CA384677640

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706436
• MyVariant Identifiers: chr12:g.49416422A>T (hg19) ; chr12:g.49022639A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022639A>T , CM000674.2:g.49022639A>T	GRCh38
NC_000012.11:g.49416422A>T , CM000674.1:g.49416422A>T	GRCh37
NC_000012.10:g.47702689A>T	NCBI36
NG_027827.1:g.37686T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.259T>A
ENST00000681974.1:n.961T>A
ENST00000682693.1:n.1923T>A
ENST00000682886.1:n.459T>A
ENST00000683543.2:c.16337T>A	ENSP00000506726.1:p.Ile5446Asn
ENST00000683988.1:c.260T>A	ENSP00000506939.1:p.Ile87Asn
ENST00000684428.1:c.824T>A	ENSP00000507433.1:p.Ile275Asn
ENST00000684755.1:n.872T>A
ENST00000685024.1:c.1443T>A
ENST00000685166.1:c.16298T>A	ENSP00000509386.1:p.Ile5433Asn
ENST00000688411.1:c.766T>A	ENSP00000510146.1:n.766T>A
ENST00000691932.1:c.290T>A	ENSP00000509037.1:p.Ile97Asn
ENST00000692637.1:c.16286T>A	ENSP00000509666.1:p.Ile5429Asn
ENST00000301067.12:c.16289T>A MANE Select	ENSP00000301067.7:p.Ile5430Asn
ENST00000301067.11:c.16289T>A	ENSP00000301067.7:p.Ile5430Asn
ENST00000526209.1:c.332T>A	ENSP00000435714.1:p.Ile111Asn
NM_003482.3:c.16289T>A	NP_003473.3:p.Ile5430Asn
XM_005269162.3:c.16289T>A	XP_005269219.1:p.Ile5430Asn
XM_006719614.2:c.16298T>A	XP_006719677.1:p.Ile5433Asn
XM_006719616.2:c.16286T>A	XP_006719679.1:p.Ile5429Asn
XM_011538770.1:c.16346T>A	XP_011537072.1:p.Ile5449Asn
XM_011538771.1:c.16343T>A	XP_011537073.1:p.Ile5448Asn
XM_011538772.1:c.16337T>A	XP_011537074.1:p.Ile5446Asn
XM_011538773.1:c.16334T>A	XP_011537075.1:p.Ile5445Asn
XM_011538774.1:c.16325T>A	XP_011537076.1:p.Ile5442Asn
XM_011538775.1:c.16280T>A	XP_011537077.1:p.Ile5427Asn
XM_011538776.1:c.16253T>A	XP_011537078.1:p.Ile5418Asn
XM_005269162.4:c.16289T>A	XP_005269219.1:p.Ile5430Asn
XM_006719614.4:c.16298T>A	XP_006719677.1:p.Ile5433Asn
XM_006719616.3:c.16286T>A	XP_006719679.1:p.Ile5429Asn
XM_011538770.2:c.16346T>A	XP_011537072.1:p.Ile5449Asn
XM_011538771.2:c.16343T>A	XP_011537073.1:p.Ile5448Asn
XM_011538772.2:c.16337T>A	XP_011537074.1:p.Ile5446Asn
XM_011538773.2:c.16334T>A	XP_011537075.1:p.Ile5445Asn
XM_011538774.2:c.16325T>A	XP_011537076.1:p.Ile5442Asn
XM_011538776.2:c.16253T>A	XP_011537078.1:p.Ile5418Asn
XR_001748874.1:n.16466T>A
NM_003482.4:c.16289T>A MANE Select	NP_003473.3:p.Ile5430Asn