Canonical Allele Identifier: CA1646826

Gene: MCFD2

Linked Data

• dbSNP Id: rs749647374
• ExAC: 2:47132556 A / G
• gnomAD v2: 2-47132556-A-G
• gnomAD v3: 2-46905417-A-G
• gnomAD v4: 2-46905417-A-G
• MyVariant Identifiers: chr2:g.47132556A>G (hg19) ; chr2:g.46905417A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46905417A>G , CM000664.2:g.46905417A>G	GRCh38
NC_000002.11:g.47132556A>G , CM000664.1:g.47132556A>G	GRCh37
NC_000002.10:g.46986060A>G	NCBI36
NG_016428.2:g.41439T>C , LRG_566:g.41439T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319466.9:c.*46T>C MANE Select	ENSP00000317271.4:n.*46T>C
ENST00000649435.1:c.*153T>C	ENSP00000498024.1:n.*153T>C
ENST00000319466.8:c.*46T>C	ENSP00000317271.4:n.*46T>C
ENST00000409105.5:c.*46T>C	ENSP00000386651.1:n.*46T>C
ENST00000409147.1:c.*46T>C	ENSP00000387082.1:n.*46T>C
ENST00000409207.5:c.*46T>C	ENSP00000386386.1:n.*46T>C
ENST00000409218.5:c.*46T>C	ENSP00000386261.1:n.*46T>C
ENST00000409800.5:c.*46T>C	ENSP00000387202.1:n.*46T>C
ENST00000409913.5:c.*46T>C	ENSP00000386941.1:n.*46T>C
ENST00000409973.5:c.*46T>C	ENSP00000386279.1:n.*46T>C
ENST00000444761.6:c.*46T>C	ENSP00000394647.2:n.*46T>C
ENST00000470873.1:n.380T>C
ENST00000493804.1:n.245T>C
NM_001171506.2:c.*46T>C , LRG_566t1:c.*46T>C	NP_001164977.1:n.*46T>C
NM_001171507.2:c.*46T>C , LRG_566t2:c.*46T>C	NP_001164978.1:n.*46T>C
NM_001171508.2:c.*46T>C , LRG_566t3:c.*46T>C	NP_001164979.1:n.*46T>C
NM_001171509.2:c.*46T>C	NP_001164980.1:n.*46T>C
NM_001171510.2:c.*46T>C	NP_001164981.1:n.*46T>C
NM_001171511.2:c.*46T>C	NP_001164982.1:n.*46T>C
NM_139279.5:c.*46T>C , LRG_566t4:c.*46T>C	NP_644808.1:n.*46T>C
NM_001171509.3:c.*46T>C	NP_001164980.1:n.*46T>C
NM_001171510.3:c.*46T>C	NP_001164981.1:n.*46T>C
NM_139279.6:c.*46T>C MANE Select	NP_644808.1:n.*46T>C
NM_001171511.3:c.*46T>C	NP_001164982.1:n.*46T>C