Canonical Allele Identifier: CA475316879
Gene: EFEMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.65636078G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868607G>C , CM000673.2:g.65868607G>C GRCh38
NC_000011.9:g.65636078G>C , CM000673.1:g.65636078G>C GRCh37
NC_000011.8:g.65392654G>C NCBI36
NG_012304.2:g.9328C>G
NG_053116.1:g.13546G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.750C>G MANE Select ENSP00000309953.6:p.Ser250=
ENST00000307998.10:c.750C>G ENSP00000309953.6:p.Ser250=
ENST00000526628.5:n.1316C>G
ENST00000527969.1:n.1435C>G
ENST00000528176.5:c.750C>G ENSP00000434151.1:p.Ser250=
ENST00000531005.5:n.1744C>G
ENST00000531972.5:c.750C>G ENSP00000435295.1:p.Ser250=
ENST00000532084.5:n.176C>G
NM_016938.4:c.750C>G NP_058634.4:p.Ser250=
NR_037718.1:n.1009C>G
NM_016938.5:c.750C>G MANE Select NP_058634.4:p.Ser250=
NR_037718.2:n.875C>G