Canonical Allele Identifier: CA1646845

Gene: MCFD2

Linked Data

• dbSNP Id: rs778480905
• ExAC: 2:47132635 A / AGTGTT
• gnomAD v2: 2-47132635-A-AGTGTT
• gnomAD v4: 2-46905496-A-AGTGTT
• MyVariant Identifiers: chr2:g.47132635_47132636insGTGTT (hg19) ; chr2:g.46905496_46905497insGTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46905496_46905497insGTGTT , CM000664.2:g.46905496_46905497insGTGTT	GRCh38
NC_000002.11:g.47132635_47132636insGTGTT , CM000664.1:g.47132635_47132636insGTGTT	GRCh37
NC_000002.10:g.46986139_46986140insGTGTT	NCBI36
NG_016428.2:g.41359_41360insAACAC , LRG_566:g.41359_41360insAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319466.9:c.407_408insAACAC MANE Select	ENSP00000317271.4:p.Asp137ThrfsTer?
ENST00000649435.1:c.*73_*74insAACAC	ENSP00000498024.1:n.*73_*74insAACAC
ENST00000319466.8:c.407_408insAACAC	ENSP00000317271.4:p.Asp137ThrfsTer?
ENST00000409105.5:c.407_408insAACAC	ENSP00000386651.1:p.Asp137ThrfsTer?
ENST00000409147.1:c.251_252insAACAC	ENSP00000387082.1:p.Asp85ThrfsTer?
ENST00000409207.5:c.407_408insAACAC	ENSP00000386386.1:p.Asp137ThrfsTer?
ENST00000409218.5:c.407_408insAACAC	ENSP00000386261.1:p.Asp137ThrfsTer?
ENST00000409800.5:c.251_252insAACAC	ENSP00000387202.1:p.Asp85ThrfsTer?
ENST00000409913.5:c.251_252insAACAC	ENSP00000386941.1:p.Asp85ThrfsTer?
ENST00000409973.5:c.407_408insAACAC	ENSP00000386279.1:p.Asp137ThrfsTer?
ENST00000412438.5:c.407_408insAACAC	ENSP00000402717.1:p.Asp137ThrfsTer?
ENST00000444761.6:c.350_351insAACAC	ENSP00000394647.2:p.Asp118ThrfsTer?
ENST00000470873.1:n.300_301insAACAC
ENST00000493804.1:n.165_166insAACAC
NM_001171506.2:c.407_408insAACAC , LRG_566t1:c.407_408insAACAC	NP_001164977.1:p.Asp137ThrfsTer?
NM_001171507.2:c.407_408insAACAC , LRG_566t2:c.407_408insAACAC	NP_001164978.1:p.Asp137ThrfsTer?
NM_001171508.2:c.407_408insAACAC , LRG_566t3:c.407_408insAACAC	NP_001164979.1:p.Asp137ThrfsTer?
NM_001171509.2:c.251_252insAACAC	NP_001164980.1:p.Asp85ThrfsTer?
NM_001171510.2:c.251_252insAACAC	NP_001164981.1:p.Asp85ThrfsTer?
NM_001171511.2:c.350_351insAACAC	NP_001164982.1:p.Asp118ThrfsTer?
NM_139279.5:c.407_408insAACAC , LRG_566t4:c.407_408insAACAC	NP_644808.1:p.Asp137ThrfsTer?
NM_001171509.3:c.251_252insAACAC	NP_001164980.1:p.Asp85ThrfsTer?
NM_001171510.3:c.251_252insAACAC	NP_001164981.1:p.Asp85ThrfsTer?
NM_139279.6:c.407_408insAACAC MANE Select	NP_644808.1:p.Asp137ThrfsTer?
NM_001171511.3:c.350_351insAACAC	NP_001164982.1:p.Asp118ThrfsTer?