Canonical Allele Identifier: CA1979444763

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 1010177
• ClinVar RCV Id: RCV001307766
• dbSNP Id: rs1859906581

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868581_65868583delinsGCA , CM000673.2:g.65868581_65868583delinsGCA	GRCh38
NC_000011.9:g.65636052_65636054delinsGCA , CM000673.1:g.65636052_65636054delinsGCA	GRCh37
NC_000011.8:g.65392628_65392630delinsGCA	NCBI36
NG_012304.2:g.9352_9354delinsTGC
NG_053116.1:g.13520_13522delinsGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.774_776delinsTGC MANE Select	ENSP00000309953.6:p.Ile259Ala
ENST00000307998.10:c.774_776delinsTGC	ENSP00000309953.6:p.Ile259Ala
ENST00000526628.5:n.1340_1342delinsTGC
ENST00000527969.1:n.1459_1461delinsTGC
ENST00000528176.5:c.774_776delinsTGC	ENSP00000434151.1:p.Ile259Ala
ENST00000531005.5:n.1768_1770delinsTGC
ENST00000531972.5:c.774_776delinsTGC	ENSP00000435295.1:p.Ile259Ala
ENST00000532084.5:n.200_202delinsTGC
NM_016938.4:c.774_776delinsTGC	NP_058634.4:p.Ile259Ala
NR_037718.1:n.1033_1035delinsTGC
NM_016938.5:c.774_776delinsTGC MANE Select	NP_058634.4:p.Ile259Ala
NR_037718.2:n.899_901delinsTGC