Canonical Allele Identifier: CA2614405752
Gene: EFEMP2 HGNC NCBI

Linked Data

gnomAD v4: 11-65868580-GAT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868581_65868582del , CM000673.2:g.65868581_65868582del GRCh38
NC_000011.9:g.65636052_65636053del , CM000673.1:g.65636052_65636053del GRCh37
NC_000011.8:g.65392628_65392629del NCBI36
NG_012304.2:g.9353_9354del
NG_053116.1:g.13520_13521del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.775_776del MANE Select ENSP00000309953.6:p.Ile259GlnfsTer26
ENST00000307998.10:c.775_776del ENSP00000309953.6:p.Ile259GlnfsTer26
ENST00000526628.5:n.1341_1342del
ENST00000527969.1:n.1460_1461del
ENST00000528176.5:c.775_776del ENSP00000434151.1:p.Ile259GlnfsTer26
ENST00000531005.5:n.1769_1770del
ENST00000531972.5:c.775_776del ENSP00000435295.1:p.Ile259GlnfsTer26
ENST00000532084.5:n.201_202del
NM_016938.4:c.775_776del NP_058634.4:p.Ile259GlnfsTer26
NR_037718.1:n.1034_1035del
NM_016938.5:c.775_776del MANE Select NP_058634.4:p.Ile259GlnfsTer26
NR_037718.2:n.900_901del
Search 100 bp 5'
Search 100 bp 3'