Canonical Allele Identifier: CA475316898
Gene: EFEMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 540032
ClinVar RCV Id: RCV002386103 RCV002531946
dbSNP Id: rs1200560839
gnomAD v3: 11-65868616-A-G
gnomAD v4: 11-65868616-A-G
MyVariant Identifiers: chr11:g.65636087A>G (hg19) chr11:g.65868616A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868616A>G , CM000673.2:g.65868616A>G GRCh38
NC_000011.9:g.65636087A>G , CM000673.1:g.65636087A>G GRCh37
NC_000011.8:g.65392663A>G NCBI36
NG_012304.2:g.9319T>C
NG_053116.1:g.13555A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.741T>C MANE Select ENSP00000309953.6:p.Cys247=
ENST00000307998.10:c.741T>C ENSP00000309953.6:p.Cys247=
ENST00000526628.5:n.1307T>C
ENST00000527969.1:n.1426T>C
ENST00000528176.5:c.741T>C ENSP00000434151.1:p.Cys247=
ENST00000531005.5:n.1735T>C
ENST00000531972.5:c.741T>C ENSP00000435295.1:p.Cys247=
ENST00000532084.5:n.167T>C
NM_016938.4:c.741T>C NP_058634.4:p.Cys247=
NR_037718.1:n.1000T>C
NM_016938.5:c.741T>C MANE Select NP_058634.4:p.Cys247=
NR_037718.2:n.866T>C
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