Canonical Allele Identifier: CA2658918324
Gene: MCFD2 HGNC NCBI

Linked Data

gnomAD v4: 2-46905435-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46905435A>G , CM000664.2:g.46905435A>G GRCh38
NC_000002.11:g.47132574A>G , CM000664.1:g.47132574A>G GRCh37
NC_000002.10:g.46986078A>G NCBI36
NG_016428.2:g.41421T>C , LRG_566:g.41421T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319466.9:c.*28T>C MANE Select ENSP00000317271.4:n.*28T>C
ENST00000649435.1:c.*135T>C ENSP00000498024.1:n.*135T>C
ENST00000319466.8:c.*28T>C ENSP00000317271.4:n.*28T>C
ENST00000409105.5:c.*28T>C ENSP00000386651.1:n.*28T>C
ENST00000409147.1:c.*28T>C ENSP00000387082.1:n.*28T>C
ENST00000409207.5:c.*28T>C ENSP00000386386.1:n.*28T>C
ENST00000409218.5:c.*28T>C ENSP00000386261.1:n.*28T>C
ENST00000409800.5:c.*28T>C ENSP00000387202.1:n.*28T>C
ENST00000409913.5:c.*28T>C ENSP00000386941.1:n.*28T>C
ENST00000409973.5:c.*28T>C ENSP00000386279.1:n.*28T>C
ENST00000444761.6:c.*28T>C ENSP00000394647.2:n.*28T>C
ENST00000470873.1:n.362T>C
ENST00000493804.1:n.227T>C
NM_001171506.2:c.*28T>C , LRG_566t1:c.*28T>C NP_001164977.1:n.*28T>C
NM_001171507.2:c.*28T>C , LRG_566t2:c.*28T>C NP_001164978.1:n.*28T>C
NM_001171508.2:c.*28T>C , LRG_566t3:c.*28T>C NP_001164979.1:n.*28T>C
NM_001171509.2:c.*28T>C NP_001164980.1:n.*28T>C
NM_001171510.2:c.*28T>C NP_001164981.1:n.*28T>C
NM_001171511.2:c.*28T>C NP_001164982.1:n.*28T>C
NM_139279.5:c.*28T>C , LRG_566t4:c.*28T>C NP_644808.1:n.*28T>C
NM_001171509.3:c.*28T>C NP_001164980.1:n.*28T>C
NM_001171510.3:c.*28T>C NP_001164981.1:n.*28T>C
NM_139279.6:c.*28T>C MANE Select NP_644808.1:n.*28T>C
NM_001171511.3:c.*28T>C NP_001164982.1:n.*28T>C