Canonical Allele Identifier: CA475316800
Gene: EFEMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.65636042T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868571T>G , CM000673.2:g.65868571T>G GRCh38
NC_000011.9:g.65636042T>G , CM000673.1:g.65636042T>G GRCh37
NC_000011.8:g.65392618T>G NCBI36
NG_012304.2:g.9364A>C
NG_053116.1:g.13510T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.786A>C MANE Select ENSP00000309953.6:p.Pro262=
ENST00000307998.10:c.786A>C ENSP00000309953.6:p.Pro262=
ENST00000526628.5:n.1352A>C
ENST00000527969.1:n.1471A>C
ENST00000528176.5:c.786A>C ENSP00000434151.1:p.Pro262=
ENST00000531005.5:n.1780A>C
ENST00000531972.5:c.786A>C ENSP00000435295.1:p.Pro262=
ENST00000532084.5:n.212A>C
NM_016938.4:c.786A>C NP_058634.4:p.Pro262=
NR_037718.1:n.1045A>C
NM_016938.5:c.786A>C MANE Select NP_058634.4:p.Pro262=
NR_037718.2:n.911A>C