Canonical Allele Identifier: CA475316882
Gene: EFEMP2 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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