Canonical Allele Identifier: CA281914
Gene: EFEMP2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.65870650C>T
GRCh37 chr11:g.65638121C>T
Revel Score:
ENST00000528176 0.955
ENST00000307998 (MANE Select) 0.955
ENST00000526624 0.955
ENST00000527378 0.955
gnomAD v2:
11:65638121 C / T
gnomAD v3:
11:65870650 C / T
gnomAD v4:
chr11-65870650-C-T
Joint Max Group AF 0.00000763 (NFE)
Exomes Max Group AF 0.00000731 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65870650C>T , CM000673.2:g.65870650C>T GRCh38
NC_000011.9:g.65638121C>T , CM000673.1:g.65638121C>T GRCh37
NC_000011.8:g.65394697C>T NCBI36
NG_012304.2:g.7285G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.376G>A MANE Select ENSP00000309953.6:p.Glu126Lys
ENST00000307998.10:c.376G>A ENSP00000309953.6:p.Glu126Lys
ENST00000526624.5:c.376G>A ENSP00000435419.1:p.Glu126Lys
ENST00000527378.1:c.376G>A ENSP00000435963.1:p.Glu126Lys
ENST00000527969.1:n.55G>A
ENST00000528176.5:c.376G>A ENSP00000434151.1:p.Glu126Lys
ENST00000530850.1:c.*188G>A ENSP00000437238.1:n.*188G>A
ENST00000531005.5:n.1370G>A
ENST00000531972.5:c.376G>A ENSP00000435295.1:p.Glu126Lys
ENST00000533347.5:c.*188G>A ENSP00000435823.1:n.*188G>A
NM_016938.4:c.376G>A NP_058634.4:p.Glu126Lys
NR_037718.1:n.635G>A
NM_016938.5:c.376G>A MANE Select NP_058634.4:p.Glu126Lys
NR_037718.2:n.501G>A
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