Canonical Allele Identifier: CA381357511
Gene: EFEMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.65636079G>C (hg19) chr11:g.65868608G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868608G>C , CM000673.2:g.65868608G>C GRCh38
NC_000011.9:g.65636079G>C , CM000673.1:g.65636079G>C GRCh37
NC_000011.8:g.65392655G>C NCBI36
NG_012304.2:g.9327C>G
NG_053116.1:g.13547G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.749C>G MANE Select ENSP00000309953.6:p.Ser250Cys
ENST00000307998.10:c.749C>G ENSP00000309953.6:p.Ser250Cys
ENST00000526628.5:n.1315C>G
ENST00000527969.1:n.1434C>G
ENST00000528176.5:c.749C>G ENSP00000434151.1:p.Ser250Cys
ENST00000531005.5:n.1743C>G
ENST00000531972.5:c.749C>G ENSP00000435295.1:p.Ser250Cys
ENST00000532084.5:n.175C>G
NM_016938.4:c.749C>G NP_058634.4:p.Ser250Cys
NR_037718.1:n.1008C>G
NM_016938.5:c.749C>G MANE Select NP_058634.4:p.Ser250Cys
NR_037718.2:n.874C>G
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