Canonical Allele Identifier: CA346710541
Gene: MCFD2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.47132656G>T (hg19) chr2:g.46905517G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46905517G>T , CM000664.2:g.46905517G>T GRCh38
NC_000002.11:g.47132656G>T , CM000664.1:g.47132656G>T GRCh37
NC_000002.10:g.46986160G>T NCBI36
NG_016428.2:g.41339C>A , LRG_566:g.41339C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000319466.9:c.387C>A MANE Select ENSP00000317271.4:p.Asp129Glu
ENST00000649435.1:c.*53C>A ENSP00000498024.1:n.*53C>A
ENST00000319466.8:c.387C>A ENSP00000317271.4:p.Asp129Glu
ENST00000409105.5:c.387C>A ENSP00000386651.1:p.Asp129Glu
ENST00000409147.1:c.231C>A ENSP00000387082.1:p.Asp77Glu
ENST00000409207.5:c.387C>A ENSP00000386386.1:p.Asp129Glu
ENST00000409218.5:c.387C>A ENSP00000386261.1:p.Asp129Glu
ENST00000409800.5:c.231C>A ENSP00000387202.1:p.Asp77Glu
ENST00000409913.5:c.231C>A ENSP00000386941.1:p.Asp77Glu
ENST00000409973.5:c.387C>A ENSP00000386279.1:p.Asp129Glu
ENST00000412438.5:c.387C>A ENSP00000402717.1:p.Asp129Glu
ENST00000444761.6:c.330C>A ENSP00000394647.2:p.Asp110Glu
ENST00000470873.1:n.280C>A
ENST00000493804.1:n.145C>A
NM_001171506.2:c.387C>A , LRG_566t1:c.387C>A NP_001164977.1:p.Asp129Glu
NM_001171507.2:c.387C>A , LRG_566t2:c.387C>A NP_001164978.1:p.Asp129Glu
NM_001171508.2:c.387C>A , LRG_566t3:c.387C>A NP_001164979.1:p.Asp129Glu
NM_001171509.2:c.231C>A NP_001164980.1:p.Asp77Glu
NM_001171510.2:c.231C>A NP_001164981.1:p.Asp77Glu
NM_001171511.2:c.330C>A NP_001164982.1:p.Asp110Glu
NM_139279.5:c.387C>A , LRG_566t4:c.387C>A NP_644808.1:p.Asp129Glu
NM_001171509.3:c.231C>A NP_001164980.1:p.Asp77Glu
NM_001171510.3:c.231C>A NP_001164981.1:p.Asp77Glu
NM_139279.6:c.387C>A MANE Select NP_644808.1:p.Asp129Glu
NM_001171511.3:c.330C>A NP_001164982.1:p.Asp110Glu
Search 100 bp 5'
Search 100 bp 3'