Canonical Allele Identifier: CA343326
Gene: EFEMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39013
ClinVar RCV Id: RCV000032271 RCV000033127
dbSNP Id: rs193302870
MyVariant Identifiers: chr11:g.65637622del (hg19) chr11:g.65870151del (hg38)
PubMed: PMID:21563328
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65870152del , CM000673.2:g.65870152del GRCh38
NC_000011.9:g.65637623del , CM000673.1:g.65637623del GRCh37
NC_000011.8:g.65394199del NCBI36
NG_012304.2:g.7784del

Transcript Alleles

HGVS Amino-acid change
ENST00000307998.11:c.577del MANE Select ENSP00000309953.6:p.Gln193SerfsTer12
ENST00000307998.10:c.577del ENSP00000309953.6:p.Gln193SerfsTer12
ENST00000526624.5:c.577del ENSP00000435419.1:p.Gln193SerfsTer?
ENST00000527969.1:n.554del
ENST00000528176.5:c.577del ENSP00000434151.1:p.Gln193SerfsTer12
ENST00000531005.5:n.1571del
ENST00000531972.5:c.577del ENSP00000435295.1:p.Gln193SerfsTer12
ENST00000533347.5:c.*389del ENSP00000435823.1:n.*389del
NM_016938.4:c.577del NP_058634.4:p.Gln193SerfsTer12
NR_037718.1:n.836del
NM_016938.5:c.577del MANE Select NP_058634.4:p.Gln193SerfsTer12
NR_037718.2:n.702del
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