Canonical Allele Identifier: CA381357528
Gene: EFEMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.65636080A>C (hg19) chr11:g.65868609A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868609A>C , CM000673.2:g.65868609A>C GRCh38
NC_000011.9:g.65636080A>C , CM000673.1:g.65636080A>C GRCh37
NC_000011.8:g.65392656A>C NCBI36
NG_012304.2:g.9326T>G
NG_053116.1:g.13548A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.748T>G MANE Select ENSP00000309953.6:p.Ser250Ala
ENST00000307998.10:c.748T>G ENSP00000309953.6:p.Ser250Ala
ENST00000526628.5:n.1314T>G
ENST00000527969.1:n.1433T>G
ENST00000528176.5:c.748T>G ENSP00000434151.1:p.Ser250Ala
ENST00000531005.5:n.1742T>G
ENST00000531972.5:c.748T>G ENSP00000435295.1:p.Ser250Ala
ENST00000532084.5:n.174T>G
NM_016938.4:c.748T>G NP_058634.4:p.Ser250Ala
NR_037718.1:n.1007T>G
NM_016938.5:c.748T>G MANE Select NP_058634.4:p.Ser250Ala
NR_037718.2:n.873T>G
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