Canonical Allele Identifier: CA475316793
Gene: EFEMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.65636036A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868565A>C , CM000673.2:g.65868565A>C GRCh38
NC_000011.9:g.65636036A>C , CM000673.1:g.65636036A>C GRCh37
NC_000011.8:g.65392612A>C NCBI36
NG_012304.2:g.9370T>G
NG_053116.1:g.13504A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.792T>G MANE Select ENSP00000309953.6:p.Arg264=
ENST00000307998.10:c.792T>G ENSP00000309953.6:p.Arg264=
ENST00000526628.5:n.1358T>G
ENST00000527969.1:n.1477T>G
ENST00000528176.5:c.792T>G ENSP00000434151.1:p.Arg264=
ENST00000531005.5:n.1786T>G
ENST00000531972.5:c.792T>G ENSP00000435295.1:p.Arg264=
ENST00000532084.5:n.218T>G
NM_016938.4:c.792T>G NP_058634.4:p.Arg264=
NR_037718.1:n.1051T>G
NM_016938.5:c.792T>G MANE Select NP_058634.4:p.Arg264=
NR_037718.2:n.917T>G