Canonical Allele Identifier: CA381357930

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 1758236
• ClinVar RCV Id: RCV002380032
• gnomAD v4: 11-65868627-T-C
• MyVariant Identifiers: chr11:g.65636098T>C (hg19) ; chr11:g.65868627T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868627T>C , CM000673.2:g.65868627T>C	GRCh38
NC_000011.9:g.65636098T>C , CM000673.1:g.65636098T>C	GRCh37
NC_000011.8:g.65392674T>C	NCBI36
NG_012304.2:g.9308A>G
NG_053116.1:g.13566T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.730A>G MANE Select	ENSP00000309953.6:p.Ile244Val
ENST00000307998.10:c.730A>G	ENSP00000309953.6:p.Ile244Val
ENST00000526628.5:n.1296A>G
ENST00000527969.1:n.1415A>G
ENST00000528176.5:c.730A>G	ENSP00000434151.1:p.Ile244Val
ENST00000531005.5:n.1724A>G
ENST00000531972.5:c.730A>G	ENSP00000435295.1:p.Ile244Val
ENST00000532084.5:n.156A>G
NM_016938.4:c.730A>G	NP_058634.4:p.Ile244Val
NR_037718.1:n.989A>G
NM_016938.5:c.730A>G MANE Select	NP_058634.4:p.Ile244Val
NR_037718.2:n.855A>G