Canonical Allele Identifier: CA6110628
Gene: EFEMP2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.65870222C>T
GRCh37 chr11:g.65637693C>T
Revel Score:
ENST00000528176 0.613
ENST00000307998 (MANE Select) 0.613
ENST00000526624 0.613
ENST00000527378 0.613
gnomAD v2:
11:65637693 C / T
gnomAD v3:
11:65870222 C / T
gnomAD v4:
chr11-65870222-C-T
Joint Max Group AF 0.00019945 (NFE)
Genomes Max Group AF 0.00017089 (NFE)
Exomes Max Group AF 0.00019635 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65870222C>T , CM000673.2:g.65870222C>T GRCh38
NC_000011.9:g.65637693C>T , CM000673.1:g.65637693C>T GRCh37
NC_000011.8:g.65394269C>T NCBI36
NG_012304.2:g.7713G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.506G>A MANE Select ENSP00000309953.6:p.Arg169His
ENST00000307998.10:c.506G>A ENSP00000309953.6:p.Arg169His
ENST00000526624.5:c.506G>A ENSP00000435419.1:p.Arg169His
ENST00000527378.1:c.506G>A ENSP00000435963.1:p.Arg169His
ENST00000527969.1:n.483G>A
ENST00000528176.5:c.506G>A ENSP00000434151.1:p.Arg169His
ENST00000530850.1:c.*318G>A ENSP00000437238.1:n.*318G>A
ENST00000531005.5:n.1500G>A
ENST00000531972.5:c.506G>A ENSP00000435295.1:p.Arg169His
ENST00000533347.5:c.*318G>A ENSP00000435823.1:n.*318G>A
NM_016938.4:c.506G>A NP_058634.4:p.Arg169His
NR_037718.1:n.765G>A
NM_016938.5:c.506G>A MANE Select NP_058634.4:p.Arg169His
NR_037718.2:n.631G>A
Search 100 bp 5'
Search 100 bp 3'