Canonical Allele Identifier: CA6110443
Gene: EFEMP2 HGNC NCBI
COSMIC:
COSM930528
MyVariant.info:
GRCh38 chr11:g.65868054C>T
GRCh37 chr11:g.65635525C>T
Revel Score:
ENST00000531645 0.751
ENST00000528176 0.751
ENST00000307998 (MANE Select) 0.751
gnomAD v2:
11:65635525 C / T
gnomAD v3:
11:65868054 C / T
gnomAD v4:
chr11-65868054-C-T
Joint Max Group AF 0.00002827 (NFE)
Genomes Max Group AF 0.00004766 (NFE)
Exomes Max Group AF 0.00002455 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65868054C>T , CM000673.2:g.65868054C>T GRCh38
NC_000011.9:g.65635525C>T , CM000673.1:g.65635525C>T GRCh37
NC_000011.8:g.65392101C>T NCBI36
NG_012304.2:g.9881G>A
NG_053116.1:g.12993C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.977G>A MANE Select ENSP00000309953.6:p.Arg326His
ENST00000307998.10:c.977G>A ENSP00000309953.6:p.Arg326His
ENST00000525392.1:n.138G>A
ENST00000526628.5:n.1543G>A
ENST00000528176.5:c.977G>A ENSP00000434151.1:p.Arg326His
ENST00000528409.1:n.210G>A
ENST00000530806.5:c.-24-41G>A ENSP00000436526.1:n.-24-41G>A
ENST00000531005.5:n.1971G>A
ENST00000531645.5:c.125G>A ENSP00000436521.1:p.Arg42His
ENST00000531972.5:c.977G>A ENSP00000435295.1:p.Arg326His
ENST00000532084.5:n.403G>A
NM_016938.4:c.977G>A NP_058634.4:p.Arg326His
NR_037718.1:n.1236G>A
NM_016938.5:c.977G>A MANE Select NP_058634.4:p.Arg326His
NR_037718.2:n.1102G>A
Search 100 bp 5'
Search 100 bp 3'