Canonical Allele Identifier: CA1979444678
Gene: EFEMP2 HGNC NCBI

Linked Data

dbSNP Id: rs1859905901
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868561_65868566dup , CM000673.2:g.65868561_65868566dup GRCh38
NC_000011.9:g.65636032_65636037dup , CM000673.1:g.65636032_65636037dup GRCh37
NC_000011.8:g.65392608_65392613dup NCBI36
NG_012304.2:g.9369_9374dup
NG_053116.1:g.13500_13505dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.791_796dup MANE Select ENSP00000309953.6:p.Phe265_Ser266insCysPhe
ENST00000307998.10:c.791_796dup ENSP00000309953.6:p.Phe265_Ser266insCysPhe
ENST00000526628.5:n.1357_1362dup
ENST00000527969.1:n.1476_1481dup
ENST00000528176.5:c.791_796dup ENSP00000434151.1:p.Phe265_Ser266insCysPhe
ENST00000531005.5:n.1785_1790dup
ENST00000531972.5:c.791_796dup ENSP00000435295.1:p.Phe265_Ser266insCysPhe
ENST00000532084.5:n.217_222dup
NM_016938.4:c.791_796dup NP_058634.4:p.Phe265_Ser266insCysPhe
NR_037718.1:n.1050_1055dup
NM_016938.5:c.791_796dup MANE Select NP_058634.4:p.Phe265_Ser266insCysPhe
NR_037718.2:n.916_921dup
Search 100 bp 5'
Search 100 bp 3'