Canonical Allele Identifier: CA475316857
Gene: EFEMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.65636066A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868595A>G , CM000673.2:g.65868595A>G GRCh38
NC_000011.9:g.65636066A>G , CM000673.1:g.65636066A>G GRCh37
NC_000011.8:g.65392642A>G NCBI36
NG_012304.2:g.9340T>C
NG_053116.1:g.13534A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.762T>C MANE Select ENSP00000309953.6:p.Cys254=
ENST00000307998.10:c.762T>C ENSP00000309953.6:p.Cys254=
ENST00000526628.5:n.1328T>C
ENST00000527969.1:n.1447T>C
ENST00000528176.5:c.762T>C ENSP00000434151.1:p.Cys254=
ENST00000531005.5:n.1756T>C
ENST00000531972.5:c.762T>C ENSP00000435295.1:p.Cys254=
ENST00000532084.5:n.188T>C
NM_016938.4:c.762T>C NP_058634.4:p.Cys254=
NR_037718.1:n.1021T>C
NM_016938.5:c.762T>C MANE Select NP_058634.4:p.Cys254=
NR_037718.2:n.887T>C