Canonical Allele Identifier: CA381307982
Gene: EFEMP2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.65870617T>A
GRCh37 chr11:g.65638088T>A
GRCh37 chr11:g.65638088_65638090delinsAGG
Revel Score:
ENST00000528176 0.716
ENST00000307998 (MANE Select) 0.716
ENST00000526624 0.716
ENST00000527378 0.716
gnomAD v2:
11:65638088 T / A
gnomAD v3:
11:65870617 T / A
gnomAD v4:
chr11-65870617-T-A
Joint Max Group AF 0.00090209 (AMR)
Genomes Max Group AF 0.00135869 (AMR)
Exomes Max Group AF 0.00063586 (AMR)
ClinVar RCV:
RCV000542730
RCV002324035
ClinVar Variation:
472824
dbSNP:
1306393544
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65870617T>A , CM000673.2:g.65870617T>A GRCh38
NC_000011.9:g.65638088T>A , CM000673.1:g.65638088T>A GRCh37
NC_000011.8:g.65394664T>A NCBI36
NG_012304.2:g.7318A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.409A>T MANE Select ENSP00000309953.6:p.Ser137Cys
ENST00000307998.10:c.409A>T ENSP00000309953.6:p.Ser137Cys
ENST00000526624.5:c.409A>T ENSP00000435419.1:p.Ser137Cys
ENST00000527378.1:c.409A>T ENSP00000435963.1:p.Ser137Cys
ENST00000527969.1:n.88A>T
ENST00000528176.5:c.409A>T ENSP00000434151.1:p.Ser137Cys
ENST00000530850.1:c.*221A>T ENSP00000437238.1:n.*221A>T
ENST00000531005.5:n.1403A>T
ENST00000531972.5:c.409A>T ENSP00000435295.1:p.Ser137Cys
ENST00000533347.5:c.*221A>T ENSP00000435823.1:n.*221A>T
NM_016938.4:c.409A>T NP_058634.4:p.Ser137Cys
NR_037718.1:n.668A>T
NM_016938.5:c.409A>T MANE Select NP_058634.4:p.Ser137Cys
NR_037718.2:n.534A>T
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