Canonical Allele Identifier: CA346710643

Gene: MCFD2

Linked Data

• gnomAD v4: 2-46905539-T-G
• MyVariant Identifiers: chr2:g.47132678T>G (hg19) ; chr2:g.46905539T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46905539T>G , CM000664.2:g.46905539T>G	GRCh38
NC_000002.11:g.47132678T>G , CM000664.1:g.47132678T>G	GRCh37
NC_000002.10:g.46986182T>G	NCBI36
NG_016428.2:g.41317A>C , LRG_566:g.41317A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319466.9:c.365A>C MANE Select	ENSP00000317271.4:p.Asp122Ala
ENST00000649435.1:c.*31A>C	ENSP00000498024.1:n.*31A>C
ENST00000319466.8:c.365A>C	ENSP00000317271.4:p.Asp122Ala
ENST00000409105.5:c.365A>C	ENSP00000386651.1:p.Asp122Ala
ENST00000409147.1:c.209A>C	ENSP00000387082.1:p.Asp70Ala
ENST00000409207.5:c.365A>C	ENSP00000386386.1:p.Asp122Ala
ENST00000409218.5:c.365A>C	ENSP00000386261.1:p.Asp122Ala
ENST00000409800.5:c.209A>C	ENSP00000387202.1:p.Asp70Ala
ENST00000409913.5:c.209A>C	ENSP00000386941.1:p.Asp70Ala
ENST00000409973.5:c.365A>C	ENSP00000386279.1:p.Asp122Ala
ENST00000412438.5:c.365A>C	ENSP00000402717.1:p.Asp122Ala
ENST00000444761.6:c.308A>C	ENSP00000394647.2:p.Asp103Ala
ENST00000470873.1:n.258A>C
ENST00000493804.1:n.123A>C
NM_001171506.2:c.365A>C , LRG_566t1:c.365A>C	NP_001164977.1:p.Asp122Ala
NM_001171507.2:c.365A>C , LRG_566t2:c.365A>C	NP_001164978.1:p.Asp122Ala
NM_001171508.2:c.365A>C , LRG_566t3:c.365A>C	NP_001164979.1:p.Asp122Ala
NM_001171509.2:c.209A>C	NP_001164980.1:p.Asp70Ala
NM_001171510.2:c.209A>C	NP_001164981.1:p.Asp70Ala
NM_001171511.2:c.308A>C	NP_001164982.1:p.Asp103Ala
NM_139279.5:c.365A>C , LRG_566t4:c.365A>C	NP_644808.1:p.Asp122Ala
NM_001171509.3:c.209A>C	NP_001164980.1:p.Asp70Ala
NM_001171510.3:c.209A>C	NP_001164981.1:p.Asp70Ala
NM_139279.6:c.365A>C MANE Select	NP_644808.1:p.Asp122Ala
NM_001171511.3:c.308A>C	NP_001164982.1:p.Asp103Ala