Canonical Allele Identifier: CA2740093067
Gene: EFEMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2998971
ClinVar RCV Id: RCV003859618
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868578_65868580del , CM000673.2:g.65868578_65868580del GRCh38
NC_000011.9:g.65636049_65636051del , CM000673.1:g.65636049_65636051del GRCh37
NC_000011.8:g.65392625_65392627del NCBI36
NG_012304.2:g.9356_9358del
NG_053116.1:g.13517_13519del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.778_780del MANE Select ENSP00000309953.6:p.Asn260del
ENST00000307998.10:c.778_780del ENSP00000309953.6:p.Asn260del
ENST00000526628.5:n.1344_1346del
ENST00000527969.1:n.1463_1465del
ENST00000528176.5:c.778_780del ENSP00000434151.1:p.Asn260del
ENST00000531005.5:n.1772_1774del
ENST00000531972.5:c.778_780del ENSP00000435295.1:p.Asn260del
ENST00000532084.5:n.204_206del
NM_016938.4:c.778_780del NP_058634.4:p.Asn260del
NR_037718.1:n.1037_1039del
NM_016938.5:c.778_780del MANE Select NP_058634.4:p.Asn260del
NR_037718.2:n.903_905del
Search 100 bp 5'
Search 100 bp 3'