Canonical Allele Identifier: CA381357314
Gene: EFEMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.65636070A>C (hg19) chr11:g.65868599A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868599A>C , CM000673.2:g.65868599A>C GRCh38
NC_000011.9:g.65636070A>C , CM000673.1:g.65636070A>C GRCh37
NC_000011.8:g.65392646A>C NCBI36
NG_012304.2:g.9336T>G
NG_053116.1:g.13538A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.758T>G MANE Select ENSP00000309953.6:p.Leu253Arg
ENST00000307998.10:c.758T>G ENSP00000309953.6:p.Leu253Arg
ENST00000526628.5:n.1324T>G
ENST00000527969.1:n.1443T>G
ENST00000528176.5:c.758T>G ENSP00000434151.1:p.Leu253Arg
ENST00000531005.5:n.1752T>G
ENST00000531972.5:c.758T>G ENSP00000435295.1:p.Leu253Arg
ENST00000532084.5:n.184T>G
NM_016938.4:c.758T>G NP_058634.4:p.Leu253Arg
NR_037718.1:n.1017T>G
NM_016938.5:c.758T>G MANE Select NP_058634.4:p.Leu253Arg
NR_037718.2:n.883T>G
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