Canonical Allele Identifier: CA384743507

Gene: KMT2D

Linked Data

• dbSNP Id: rs2120511801
• MyVariant Identifiers: chr12:g.49433264G>T (hg19) ; chr12:g.49039481G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039481G>T , CM000674.2:g.49039481G>T	GRCh38
NC_000012.11:g.49433264G>T , CM000674.1:g.49433264G>T	GRCh37
NC_000012.10:g.47719531G>T	NCBI36
NG_027827.1:g.20844C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8183C>A	ENSP00000506726.1:p.Ala2728Asp
ENST00000685166.1:c.8192C>A	ENSP00000509386.1:p.Ala2731Asp
ENST00000689060.1:c.2202C>A
ENST00000689143.1:c.1856C>A	ENSP00000509839.1:p.Ala619Asp
ENST00000689944.1:c.2292C>A
ENST00000692637.1:c.8180C>A	ENSP00000509666.1:p.Ala2727Asp
ENST00000301067.12:c.8183C>A MANE Select	ENSP00000301067.7:p.Ala2728Asp
ENST00000301067.11:c.8183C>A	ENSP00000301067.7:p.Ala2728Asp
NM_003482.3:c.8183C>A	NP_003473.3:p.Ala2728Asp
XM_005269162.3:c.8183C>A	XP_005269219.1:p.Ala2728Asp
XM_006719614.2:c.8192C>A	XP_006719677.1:p.Ala2731Asp
XM_006719616.2:c.8180C>A	XP_006719679.1:p.Ala2727Asp
XM_011538770.1:c.8192C>A	XP_011537072.1:p.Ala2731Asp
XM_011538771.1:c.8189C>A	XP_011537073.1:p.Ala2730Asp
XM_011538772.1:c.8183C>A	XP_011537074.1:p.Ala2728Asp
XM_011538773.1:c.8180C>A	XP_011537075.1:p.Ala2727Asp
XM_011538774.1:c.8171C>A	XP_011537076.1:p.Ala2724Asp
XM_011538775.1:c.8192C>A	XP_011537077.1:p.Ala2731Asp
XM_011538776.1:c.8099C>A	XP_011537078.1:p.Ala2700Asp
XR_944740.1:n.10512C>A
XM_005269162.4:c.8183C>A	XP_005269219.1:p.Ala2728Asp
XM_006719614.4:c.8192C>A	XP_006719677.1:p.Ala2731Asp
XM_006719616.3:c.8180C>A	XP_006719679.1:p.Ala2727Asp
XM_011538770.2:c.8192C>A	XP_011537072.1:p.Ala2731Asp
XM_011538771.2:c.8189C>A	XP_011537073.1:p.Ala2730Asp
XM_011538772.2:c.8183C>A	XP_011537074.1:p.Ala2728Asp
XM_011538773.2:c.8180C>A	XP_011537075.1:p.Ala2727Asp
XM_011538774.2:c.8171C>A	XP_011537076.1:p.Ala2724Asp
XM_011538776.2:c.8099C>A	XP_011537078.1:p.Ala2700Asp
XR_001748874.1:n.9501C>A
NM_003482.4:c.8183C>A MANE Select	NP_003473.3:p.Ala2728Asp