Canonical Allele Identifier: CA6110534
Gene: EFEMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1805442
ClinVar RCV Id: RCV002471860
dbSNP Id: rs753199874
ExAC: 11:65636090 CTCA / C
gnomAD v2: 11-65636090-CTCA-C
gnomAD v3: 11-65868619-CTCA-C
gnomAD v4: 11-65868619-CTCA-C
MyVariant Identifiers: chr11:g.65636091_65636093del (hg19) chr11:g.65868620_65868622del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868623_65868625del , CM000673.2:g.65868623_65868625del GRCh38
NC_000011.9:g.65636094_65636096del , CM000673.1:g.65636094_65636096del GRCh37
NC_000011.8:g.65392670_65392672del NCBI36
NG_012304.2:g.9313_9315del
NG_053116.1:g.13562_13564del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.735_737del MANE Select ENSP00000309953.6:p.Asp245del
ENST00000307998.10:c.735_737del ENSP00000309953.6:p.Asp245del
ENST00000526628.5:n.1301_1303del
ENST00000527969.1:n.1420_1422del
ENST00000528176.5:c.735_737del ENSP00000434151.1:p.Asp245del
ENST00000531005.5:n.1729_1731del
ENST00000531972.5:c.735_737del ENSP00000435295.1:p.Asp245del
ENST00000532084.5:n.161_163del
NM_016938.4:c.735_737del NP_058634.4:p.Asp245del
NR_037718.1:n.994_996del
NM_016938.5:c.735_737del MANE Select NP_058634.4:p.Asp245del
NR_037718.2:n.860_862del
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