Canonical Allele Identifier: CA381358017
Gene: EFEMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.65636102T>G (hg19) chr11:g.65868631T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868631T>G , CM000673.2:g.65868631T>G GRCh38
NC_000011.9:g.65636102T>G , CM000673.1:g.65636102T>G GRCh37
NC_000011.8:g.65392678T>G NCBI36
NG_012304.2:g.9304A>C
NG_053116.1:g.13570T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.728-2A>C MANE Select ENSP00000309953.6:n.728-2A>C
ENST00000307998.10:c.728-2A>C ENSP00000309953.6:n.728-2A>C
ENST00000526628.5:n.1292A>C
ENST00000527969.1:n.1411A>C
ENST00000528176.5:c.728-2A>C ENSP00000434151.1:n.728-2A>C
ENST00000531005.5:n.1722-2A>C
ENST00000531972.5:c.728-2A>C ENSP00000435295.1:n.728-2A>C
ENST00000532084.5:n.154-2A>C
NM_016938.4:c.728-2A>C NP_058634.4:n.728-2A>C
NR_037718.1:n.987-2A>C
NM_016938.5:c.728-2A>C MANE Select NP_058634.4:n.728-2A>C
NR_037718.2:n.853-2A>C
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