Canonical Allele Identifier: CA6110526
Gene: EFEMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3226937
ClinVar RCV Id: RCV004522103
dbSNP Id: rs755167697
ExAC: 11:65636039 G / T
gnomAD v2: 11-65636039-G-T
gnomAD v3: 11-65868568-G-T
gnomAD v4: 11-65868568-G-T
MyVariant Identifiers: chr11:g.65636039G>T (hg19) chr11:g.65868568G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868568G>T , CM000673.2:g.65868568G>T GRCh38
NC_000011.9:g.65636039G>T , CM000673.1:g.65636039G>T GRCh37
NC_000011.8:g.65392615G>T NCBI36
NG_012304.2:g.9367C>A
NG_053116.1:g.13507G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.789C>A MANE Select ENSP00000309953.6:p.Gly263=
ENST00000307998.10:c.789C>A ENSP00000309953.6:p.Gly263=
ENST00000526628.5:n.1355C>A
ENST00000527969.1:n.1474C>A
ENST00000528176.5:c.789C>A ENSP00000434151.1:p.Gly263=
ENST00000531005.5:n.1783C>A
ENST00000531972.5:c.789C>A ENSP00000435295.1:p.Gly263=
ENST00000532084.5:n.215C>A
NM_016938.4:c.789C>A NP_058634.4:p.Gly263=
NR_037718.1:n.1048C>A
NM_016938.5:c.789C>A MANE Select NP_058634.4:p.Gly263=
NR_037718.2:n.914C>A
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Search 100 bp 3'