Canonical Allele Identifier: CA224016937
Gene: EFEMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1703262
ClinVar RCV Id: RCV002280384 RCV002400412
dbSNP Id: rs972435635
gnomAD v2: 11-65636059-G-A
gnomAD v3: 11-65868588-G-A
gnomAD v4: 11-65868588-G-A
COSMIC: COSM6450762
MyVariant Identifiers: chr11:g.65636059G>A (hg19) chr11:g.65868588G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868588G>A , CM000673.2:g.65868588G>A GRCh38
NC_000011.9:g.65636059G>A , CM000673.1:g.65636059G>A GRCh37
NC_000011.8:g.65392635G>A NCBI36
NG_012304.2:g.9347C>T
NG_053116.1:g.13527G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.769C>T MANE Select ENSP00000309953.6:p.Arg257Cys
ENST00000307998.10:c.769C>T ENSP00000309953.6:p.Arg257Cys
ENST00000526628.5:n.1335C>T
ENST00000527969.1:n.1454C>T
ENST00000528176.5:c.769C>T ENSP00000434151.1:p.Arg257Cys
ENST00000531005.5:n.1763C>T
ENST00000531972.5:c.769C>T ENSP00000435295.1:p.Arg257Cys
ENST00000532084.5:n.195C>T
NM_016938.4:c.769C>T NP_058634.4:p.Arg257Cys
NR_037718.1:n.1028C>T
NM_016938.5:c.769C>T MANE Select NP_058634.4:p.Arg257Cys
NR_037718.2:n.894C>T
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