Canonical Allele Identifier: CA10615412

Gene: MCFD2

Linked Data

• ClinVar Variation Id: 336388
• ClinVar RCV Id: RCV000406848
• dbSNP Id: rs886056121
• MyVariant Identifiers: chr2:g.47142944_47142946del (hg19) ; chr2:g.46915805_46915807del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46915806_46915808del , CM000664.2:g.46915806_46915808del	GRCh38
NC_000002.11:g.47142945_47142947del , CM000664.1:g.47142945_47142947del	GRCh37
NC_000002.10:g.46996449_46996451del	NCBI36
NG_016428.2:g.31049_31051del , LRG_566:g.31049_31051del
NG_034143.1:g.4678_4680del
NG_034143.2:g.4678_4680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319466.8:c.-91_-89del	ENSP00000317271.4:n.-91_-89del
ENST00000409147.1:c.-7-7838_-7-7836del	ENSP00000387082.1:n.-7-7838_-7-7836del
ENST00000409207.5:c.-6-6630_-6-6628del	ENSP00000386386.1:n.-6-6630_-6-6628del
ENST00000409218.5:c.-7+174_-7+176del	ENSP00000386261.1:n.-7+174_-7+176del
ENST00000409800.5:c.-8+174_-8+176del	ENSP00000387202.1:n.-8+174_-8+176del
ENST00000409913.5:c.-92_-90del	ENSP00000386941.1:n.-92_-90del
ENST00000409973.5:c.-185_-183del	ENSP00000386279.1:n.-185_-183del
ENST00000444761.6:c.93-7838_93-7836del	ENSP00000394647.2:n.93-7838_93-7836del
ENST00000470873.1:n.203-10213_203-10211del
ENST00000479225.1:n.144-6630_144-6628del
ENST00000487121.1:n.157-6630_157-6628del
NM_001171506.2:c.-185_-183del , LRG_566t1:c.-185_-183del	NP_001164977.1:n.-185_-183del
NM_001171507.2:c.-7+174_-7+176del , LRG_566t2:c.-7+174_-7+176del	NP_001164978.1:n.-7+174_-7+176del
NM_001171508.2:c.-6-6630_-6-6628del , LRG_566t3:c.-6-6630_-6-6628del	NP_001164979.1:n.-6-6630_-6-6628del
NM_001171509.2:c.-92_-90del	NP_001164980.1:n.-92_-90del
NM_001171510.2:c.-8+174_-8+176del	NP_001164981.1:n.-8+174_-8+176del
NM_001171511.2:c.93-7838_93-7836del	NP_001164982.1:n.93-7838_93-7836del
NM_139279.5:c.-91_-89del , LRG_566t4:c.-91_-89del	NP_644808.1:n.-91_-89del
NM_001171510.3:c.-8+174_-8+176del	NP_001164981.1:n.-8+174_-8+176del
NM_001171511.3:c.93-7838_93-7836del	NP_001164982.1:n.93-7838_93-7836del