Canonical Allele Identifier: CA346710715

Gene: MCFD2

Linked Data

• gnomAD v4: 2-46905554-A-G
• MyVariant Identifiers: chr2:g.47132693A>G (hg19) ; chr2:g.46905554A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46905554A>G , CM000664.2:g.46905554A>G	GRCh38
NC_000002.11:g.47132693A>G , CM000664.1:g.47132693A>G	GRCh37
NC_000002.10:g.46986197A>G	NCBI36
NG_016428.2:g.41302T>C , LRG_566:g.41302T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319466.9:c.350T>C MANE Select	ENSP00000317271.4:p.Leu117Pro
ENST00000649435.1:c.*16T>C	ENSP00000498024.1:n.*16T>C
ENST00000319466.8:c.350T>C	ENSP00000317271.4:p.Leu117Pro
ENST00000409105.5:c.350T>C	ENSP00000386651.1:p.Leu117Pro
ENST00000409147.1:c.194T>C	ENSP00000387082.1:p.Leu65Pro
ENST00000409207.5:c.350T>C	ENSP00000386386.1:p.Leu117Pro
ENST00000409218.5:c.350T>C	ENSP00000386261.1:p.Leu117Pro
ENST00000409800.5:c.194T>C	ENSP00000387202.1:p.Leu65Pro
ENST00000409913.5:c.194T>C	ENSP00000386941.1:p.Leu65Pro
ENST00000409973.5:c.350T>C	ENSP00000386279.1:p.Leu117Pro
ENST00000412438.5:c.350T>C	ENSP00000402717.1:p.Leu117Pro
ENST00000444761.6:c.293T>C	ENSP00000394647.2:p.Leu98Pro
ENST00000470873.1:n.243T>C
ENST00000493804.1:n.108T>C
NM_001171506.2:c.350T>C , LRG_566t1:c.350T>C	NP_001164977.1:p.Leu117Pro
NM_001171507.2:c.350T>C , LRG_566t2:c.350T>C	NP_001164978.1:p.Leu117Pro
NM_001171508.2:c.350T>C , LRG_566t3:c.350T>C	NP_001164979.1:p.Leu117Pro
NM_001171509.2:c.194T>C	NP_001164980.1:p.Leu65Pro
NM_001171510.2:c.194T>C	NP_001164981.1:p.Leu65Pro
NM_001171511.2:c.293T>C	NP_001164982.1:p.Leu98Pro
NM_139279.5:c.350T>C , LRG_566t4:c.350T>C	NP_644808.1:p.Leu117Pro
NM_001171509.3:c.194T>C	NP_001164980.1:p.Leu65Pro
NM_001171510.3:c.194T>C	NP_001164981.1:p.Leu65Pro
NM_139279.6:c.350T>C MANE Select	NP_644808.1:p.Leu117Pro
NM_001171511.3:c.293T>C	NP_001164982.1:p.Leu98Pro