Canonical Allele Identifier: CA346710590

Gene: MCFD2

Linked Data

• MyVariant Identifiers: chr2:g.47132666C>A (hg19) ; chr2:g.46905527C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46905527C>A , CM000664.2:g.46905527C>A	GRCh38
NC_000002.11:g.47132666C>A , CM000664.1:g.47132666C>A	GRCh37
NC_000002.10:g.46986170C>A	NCBI36
NG_016428.2:g.41329G>T , LRG_566:g.41329G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319466.9:c.377G>T MANE Select	ENSP00000317271.4:p.Arg126Ile
ENST00000649435.1:c.*43G>T	ENSP00000498024.1:n.*43G>T
ENST00000319466.8:c.377G>T	ENSP00000317271.4:p.Arg126Ile
ENST00000409105.5:c.377G>T	ENSP00000386651.1:p.Arg126Ile
ENST00000409147.1:c.221G>T	ENSP00000387082.1:p.Arg74Ile
ENST00000409207.5:c.377G>T	ENSP00000386386.1:p.Arg126Ile
ENST00000409218.5:c.377G>T	ENSP00000386261.1:p.Arg126Ile
ENST00000409800.5:c.221G>T	ENSP00000387202.1:p.Arg74Ile
ENST00000409913.5:c.221G>T	ENSP00000386941.1:p.Arg74Ile
ENST00000409973.5:c.377G>T	ENSP00000386279.1:p.Arg126Ile
ENST00000412438.5:c.377G>T	ENSP00000402717.1:p.Arg126Ile
ENST00000444761.6:c.320G>T	ENSP00000394647.2:p.Arg107Ile
ENST00000470873.1:n.270G>T
ENST00000493804.1:n.135G>T
NM_001171506.2:c.377G>T , LRG_566t1:c.377G>T	NP_001164977.1:p.Arg126Ile
NM_001171507.2:c.377G>T , LRG_566t2:c.377G>T	NP_001164978.1:p.Arg126Ile
NM_001171508.2:c.377G>T , LRG_566t3:c.377G>T	NP_001164979.1:p.Arg126Ile
NM_001171509.2:c.221G>T	NP_001164980.1:p.Arg74Ile
NM_001171510.2:c.221G>T	NP_001164981.1:p.Arg74Ile
NM_001171511.2:c.320G>T	NP_001164982.1:p.Arg107Ile
NM_139279.5:c.377G>T , LRG_566t4:c.377G>T	NP_644808.1:p.Arg126Ile
NM_001171509.3:c.221G>T	NP_001164980.1:p.Arg74Ile
NM_001171510.3:c.221G>T	NP_001164981.1:p.Arg74Ile
NM_139279.6:c.377G>T MANE Select	NP_644808.1:p.Arg126Ile
NM_001171511.3:c.320G>T	NP_001164982.1:p.Arg107Ile