Canonical Allele Identifier: CA384677414

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706225
• gnomAD v4: 12-49022605-T-A
• MyVariant Identifiers: chr12:g.49416388T>A (hg19) ; chr12:g.49022605T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022605T>A , CM000674.2:g.49022605T>A	GRCh38
NC_000012.11:g.49416388T>A , CM000674.1:g.49416388T>A	GRCh37
NC_000012.10:g.47702655T>A	NCBI36
NG_027827.1:g.37720A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.293A>T
ENST00000681974.1:n.995A>T
ENST00000682693.1:n.1957A>T
ENST00000682886.1:n.493A>T
ENST00000683543.2:c.16371A>T	ENSP00000506726.1:p.Lys5457Asn
ENST00000683988.1:c.294A>T	ENSP00000506939.1:p.Lys98Asn
ENST00000684428.1:c.858A>T	ENSP00000507433.1:p.Lys286Asn
ENST00000684755.1:n.906A>T
ENST00000685024.1:c.1477A>T
ENST00000685166.1:c.16332A>T	ENSP00000509386.1:p.Lys5444Asn
ENST00000688411.1:c.800A>T	ENSP00000510146.1:n.800A>T
ENST00000691932.1:c.324A>T	ENSP00000509037.1:p.Lys108Asn
ENST00000692637.1:c.16320A>T	ENSP00000509666.1:p.Lys5440Asn
ENST00000301067.12:c.16323A>T MANE Select	ENSP00000301067.7:p.Lys5441Asn
ENST00000301067.11:c.16323A>T	ENSP00000301067.7:p.Lys5441Asn
ENST00000526209.1:c.366A>T	ENSP00000435714.1:p.Lys122Asn
NM_003482.3:c.16323A>T	NP_003473.3:p.Lys5441Asn
XM_005269162.3:c.16323A>T	XP_005269219.1:p.Lys5441Asn
XM_006719614.2:c.16332A>T	XP_006719677.1:p.Lys5444Asn
XM_006719616.2:c.16320A>T	XP_006719679.1:p.Lys5440Asn
XM_011538770.1:c.16380A>T	XP_011537072.1:p.Lys5460Asn
XM_011538771.1:c.16377A>T	XP_011537073.1:p.Lys5459Asn
XM_011538772.1:c.16371A>T	XP_011537074.1:p.Lys5457Asn
XM_011538773.1:c.16368A>T	XP_011537075.1:p.Lys5456Asn
XM_011538774.1:c.16359A>T	XP_011537076.1:p.Lys5453Asn
XM_011538775.1:c.16314A>T	XP_011537077.1:p.Lys5438Asn
XM_011538776.1:c.16287A>T	XP_011537078.1:p.Lys5429Asn
XM_005269162.4:c.16323A>T	XP_005269219.1:p.Lys5441Asn
XM_006719614.4:c.16332A>T	XP_006719677.1:p.Lys5444Asn
XM_006719616.3:c.16320A>T	XP_006719679.1:p.Lys5440Asn
XM_011538770.2:c.16380A>T	XP_011537072.1:p.Lys5460Asn
XM_011538771.2:c.16377A>T	XP_011537073.1:p.Lys5459Asn
XM_011538772.2:c.16371A>T	XP_011537074.1:p.Lys5457Asn
XM_011538773.2:c.16368A>T	XP_011537075.1:p.Lys5456Asn
XM_011538774.2:c.16359A>T	XP_011537076.1:p.Lys5453Asn
XM_011538776.2:c.16287A>T	XP_011537078.1:p.Lys5429Asn
XR_001748874.1:n.16500A>T
NM_003482.4:c.16323A>T MANE Select	NP_003473.3:p.Lys5441Asn