Canonical Allele Identifier: CA346710554

Gene: MCFD2

Linked Data

• gnomAD v4: 2-46905519-C-T
• MyVariant Identifiers: chr2:g.47132658C>T (hg19) ; chr2:g.46905519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46905519C>T , CM000664.2:g.46905519C>T	GRCh38
NC_000002.11:g.47132658C>T , CM000664.1:g.47132658C>T	GRCh37
NC_000002.10:g.46986162C>T	NCBI36
NG_016428.2:g.41337G>A , LRG_566:g.41337G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319466.9:c.385G>A MANE Select	ENSP00000317271.4:p.Asp129Asn
ENST00000649435.1:c.*51G>A	ENSP00000498024.1:n.*51G>A
ENST00000319466.8:c.385G>A	ENSP00000317271.4:p.Asp129Asn
ENST00000409105.5:c.385G>A	ENSP00000386651.1:p.Asp129Asn
ENST00000409147.1:c.229G>A	ENSP00000387082.1:p.Asp77Asn
ENST00000409207.5:c.385G>A	ENSP00000386386.1:p.Asp129Asn
ENST00000409218.5:c.385G>A	ENSP00000386261.1:p.Asp129Asn
ENST00000409800.5:c.229G>A	ENSP00000387202.1:p.Asp77Asn
ENST00000409913.5:c.229G>A	ENSP00000386941.1:p.Asp77Asn
ENST00000409973.5:c.385G>A	ENSP00000386279.1:p.Asp129Asn
ENST00000412438.5:c.385G>A	ENSP00000402717.1:p.Asp129Asn
ENST00000444761.6:c.328G>A	ENSP00000394647.2:p.Asp110Asn
ENST00000470873.1:n.278G>A
ENST00000493804.1:n.143G>A
NM_001171506.2:c.385G>A , LRG_566t1:c.385G>A	NP_001164977.1:p.Asp129Asn
NM_001171507.2:c.385G>A , LRG_566t2:c.385G>A	NP_001164978.1:p.Asp129Asn
NM_001171508.2:c.385G>A , LRG_566t3:c.385G>A	NP_001164979.1:p.Asp129Asn
NM_001171509.2:c.229G>A	NP_001164980.1:p.Asp77Asn
NM_001171510.2:c.229G>A	NP_001164981.1:p.Asp77Asn
NM_001171511.2:c.328G>A	NP_001164982.1:p.Asp110Asn
NM_139279.5:c.385G>A , LRG_566t4:c.385G>A	NP_644808.1:p.Asp129Asn
NM_001171509.3:c.229G>A	NP_001164980.1:p.Asp77Asn
NM_001171510.3:c.229G>A	NP_001164981.1:p.Asp77Asn
NM_139279.6:c.385G>A MANE Select	NP_644808.1:p.Asp129Asn
NM_001171511.3:c.328G>A	NP_001164982.1:p.Asp110Asn