Canonical Allele Identifier: CA10615709

Gene: MCFD2

Linked Data

• ClinVar Variation Id: 336378
• ClinVar RCV Id: RCV000329571 ; RCV001691960
• dbSNP Id: rs71423925
• gnomAD v2: 2-47132529-T-C
• gnomAD v3: 2-46905390-T-C
• gnomAD v4: 2-46905390-T-C
• MyVariant Identifiers: chr2:g.47132529T>C (hg19) ; chr2:g.46905390T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46905390T>C , CM000664.2:g.46905390T>C	GRCh38
NC_000002.11:g.47132529T>C , CM000664.1:g.47132529T>C	GRCh37
NC_000002.10:g.46986033T>C	NCBI36
NG_016428.2:g.41466A>G , LRG_566:g.41466A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319466.9:c.*73A>G MANE Select	ENSP00000317271.4:n.*73A>G
ENST00000649435.1:c.*180A>G	ENSP00000498024.1:n.*180A>G
ENST00000319466.8:c.*73A>G	ENSP00000317271.4:n.*73A>G
ENST00000409105.5:c.*73A>G	ENSP00000386651.1:n.*73A>G
ENST00000409147.1:c.*73A>G	ENSP00000387082.1:n.*73A>G
ENST00000409207.5:c.*73A>G	ENSP00000386386.1:n.*73A>G
ENST00000409800.5:c.*73A>G	ENSP00000387202.1:n.*73A>G
ENST00000409913.5:c.*73A>G	ENSP00000386941.1:n.*73A>G
ENST00000409973.5:c.*73A>G	ENSP00000386279.1:n.*73A>G
ENST00000444761.6:c.*73A>G	ENSP00000394647.2:n.*73A>G
ENST00000470873.1:n.407A>G
ENST00000493804.1:n.272A>G
NM_001171506.2:c.*73A>G , LRG_566t1:c.*73A>G	NP_001164977.1:n.*73A>G
NM_001171507.2:c.*73A>G , LRG_566t2:c.*73A>G	NP_001164978.1:n.*73A>G
NM_001171508.2:c.*73A>G , LRG_566t3:c.*73A>G	NP_001164979.1:n.*73A>G
NM_001171509.2:c.*73A>G	NP_001164980.1:n.*73A>G
NM_001171510.2:c.*73A>G	NP_001164981.1:n.*73A>G
NM_001171511.2:c.*73A>G	NP_001164982.1:n.*73A>G
NM_139279.5:c.*73A>G , LRG_566t4:c.*73A>G	NP_644808.1:n.*73A>G
NM_001171509.3:c.*73A>G	NP_001164980.1:n.*73A>G
NM_001171510.3:c.*73A>G	NP_001164981.1:n.*73A>G
NM_139279.6:c.*73A>G MANE Select	NP_644808.1:n.*73A>G
NM_001171511.3:c.*73A>G	NP_001164982.1:n.*73A>G