Canonical Allele Identifier: CA10615413

Gene: MCFD2

Linked Data

• ClinVar Variation Id: 336390
• ClinVar RCV Id: RCV000343259
• dbSNP Id: rs886056123
• gnomAD v3: 2-46915807-CCCCG-C
• gnomAD v4: 2-46915807-CCCCG-C
• MyVariant Identifiers: chr2:g.47142947_47142950del (hg19) ; chr2:g.46915808_46915811del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46915811_46915814del , CM000664.2:g.46915811_46915814del	GRCh38
NC_000002.11:g.47142950_47142953del , CM000664.1:g.47142950_47142953del	GRCh37
NC_000002.10:g.46996454_46996457del	NCBI36
NG_016428.2:g.31045_31048del , LRG_566:g.31045_31048del
NG_034143.1:g.4683_4686del
NG_034143.2:g.4683_4686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319466.8:c.-95_-92del	ENSP00000317271.4:n.-95_-92del
ENST00000409147.1:c.-7-7842_-7-7839del	ENSP00000387082.1:n.-7-7842_-7-7839del
ENST00000409207.5:c.-6-6634_-6-6631del	ENSP00000386386.1:n.-6-6634_-6-6631del
ENST00000409218.5:c.-7+170_-7+173del	ENSP00000386261.1:n.-7+170_-7+173del
ENST00000409800.5:c.-8+170_-8+173del	ENSP00000387202.1:n.-8+170_-8+173del
ENST00000409913.5:c.-96_-93del	ENSP00000386941.1:n.-96_-93del
ENST00000444761.6:c.93-7842_93-7839del	ENSP00000394647.2:n.93-7842_93-7839del
ENST00000470873.1:n.203-10217_203-10214del
ENST00000479225.1:n.144-6634_144-6631del
ENST00000487121.1:n.157-6634_157-6631del
NM_001171506.2:c.-189_-186del , LRG_566t1:c.-189_-186del	NP_001164977.1:n.-189_-186del
NM_001171507.2:c.-7+170_-7+173del , LRG_566t2:c.-7+170_-7+173del	NP_001164978.1:n.-7+170_-7+173del
NM_001171508.2:c.-6-6634_-6-6631del , LRG_566t3:c.-6-6634_-6-6631del	NP_001164979.1:n.-6-6634_-6-6631del
NM_001171509.2:c.-96_-93del	NP_001164980.1:n.-96_-93del
NM_001171510.2:c.-8+170_-8+173del	NP_001164981.1:n.-8+170_-8+173del
NM_001171511.2:c.93-7842_93-7839del	NP_001164982.1:n.93-7842_93-7839del
NM_139279.5:c.-95_-92del , LRG_566t4:c.-95_-92del	NP_644808.1:n.-95_-92del
NM_001171510.3:c.-8+170_-8+173del	NP_001164981.1:n.-8+170_-8+173del
NM_001171511.3:c.93-7842_93-7839del	NP_001164982.1:n.93-7842_93-7839del