Canonical Allele Identifier: CA2499221179

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 1090452
• ClinVar RCV Id: RCV001409631

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868582_65868583delinsCA , CM000673.2:g.65868582_65868583delinsCA	GRCh38
NC_000011.9:g.65636053_65636054delinsCA , CM000673.1:g.65636053_65636054delinsCA	GRCh37
NC_000011.8:g.65392629_65392630delinsCA	NCBI36
NG_012304.2:g.9352_9353delinsTG
NG_053116.1:g.13521_13522delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.774_775delinsTG MANE Select	ENSP00000309953.6:p.Ile259Val
ENST00000307998.10:c.774_775delinsTG	ENSP00000309953.6:p.Ile259Val
ENST00000526628.5:n.1340_1341delinsTG
ENST00000527969.1:n.1459_1460delinsTG
ENST00000528176.5:c.774_775delinsTG	ENSP00000434151.1:p.Ile259Val
ENST00000531005.5:n.1768_1769delinsTG
ENST00000531972.5:c.774_775delinsTG	ENSP00000435295.1:p.Ile259Val
ENST00000532084.5:n.200_201delinsTG
NM_016938.4:c.774_775delinsTG	NP_058634.4:p.Ile259Val
NR_037718.1:n.1033_1034delinsTG
NM_016938.5:c.774_775delinsTG MANE Select	NP_058634.4:p.Ile259Val
NR_037718.2:n.899_900delinsTG