Canonical Allele Identifier: CA46624709

Gene: MCFD2

Linked Data

• ClinVar Variation Id: 2593430
• ClinVar RCV Id: RCV004335408
• dbSNP Id: rs765992456
• gnomAD v2: 2-47132607-G-T
• gnomAD v3: 2-46905468-G-T
• gnomAD v4: 2-46905468-G-T
• MyVariant Identifiers: chr2:g.47132607G>T (hg19) ; chr2:g.46905468G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46905468G>T , CM000664.2:g.46905468G>T	GRCh38
NC_000002.11:g.47132607G>T , CM000664.1:g.47132607G>T	GRCh37
NC_000002.10:g.46986111G>T	NCBI36
NG_016428.2:g.41388C>A , LRG_566:g.41388C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319466.9:c.436C>A MANE Select	ENSP00000317271.4:p.Gln146Lys
ENST00000649435.1:c.*102C>A	ENSP00000498024.1:n.*102C>A
ENST00000319466.8:c.436C>A	ENSP00000317271.4:p.Gln146Lys
ENST00000409105.5:c.436C>A	ENSP00000386651.1:p.Gln146Lys
ENST00000409147.1:c.280C>A	ENSP00000387082.1:p.Gln94Lys
ENST00000409207.5:c.436C>A	ENSP00000386386.1:p.Gln146Lys
ENST00000409218.5:c.436C>A	ENSP00000386261.1:p.Gln146Lys
ENST00000409800.5:c.280C>A	ENSP00000387202.1:p.Gln94Lys
ENST00000409913.5:c.280C>A	ENSP00000386941.1:p.Gln94Lys
ENST00000409973.5:c.436C>A	ENSP00000386279.1:p.Gln146Lys
ENST00000412438.5:c.436C>A	ENSP00000402717.1:p.Gln146Lys
ENST00000444761.6:c.379C>A	ENSP00000394647.2:p.Gln127Lys
ENST00000470873.1:n.329C>A
ENST00000493804.1:n.194C>A
NM_001171506.2:c.436C>A , LRG_566t1:c.436C>A	NP_001164977.1:p.Gln146Lys
NM_001171507.2:c.436C>A , LRG_566t2:c.436C>A	NP_001164978.1:p.Gln146Lys
NM_001171508.2:c.436C>A , LRG_566t3:c.436C>A	NP_001164979.1:p.Gln146Lys
NM_001171509.2:c.280C>A	NP_001164980.1:p.Gln94Lys
NM_001171510.2:c.280C>A	NP_001164981.1:p.Gln94Lys
NM_001171511.2:c.379C>A	NP_001164982.1:p.Gln127Lys
NM_139279.5:c.436C>A , LRG_566t4:c.436C>A	NP_644808.1:p.Gln146Lys
NM_001171509.3:c.280C>A	NP_001164980.1:p.Gln94Lys
NM_001171510.3:c.280C>A	NP_001164981.1:p.Gln94Lys
NM_139279.6:c.436C>A MANE Select	NP_644808.1:p.Gln146Lys
NM_001171511.3:c.379C>A	NP_001164982.1:p.Gln127Lys