Canonical Allele Identifier: CA6110671
Gene: EFEMP2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.65870604T>A
GRCh37 chr11:g.65638075T>A
Revel Score:
ENST00000528176 0.385
ENST00000307998 (MANE Select) 0.385
ENST00000526624 0.385
ENST00000527378 0.385
gnomAD v2:
11:65638075 T / A
gnomAD v3:
11:65870604 T / A
gnomAD v4:
chr11-65870604-T-A
Joint Max Group AF 0.00019258 (NFE)
Genomes Max Group AF 0.00018205 (NFE)
Exomes Max Group AF 0.00018818 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65870604T>A , CM000673.2:g.65870604T>A GRCh38
NC_000011.9:g.65638075T>A , CM000673.1:g.65638075T>A GRCh37
NC_000011.8:g.65394651T>A NCBI36
NG_012304.2:g.7331A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307998.11:c.422A>T MANE Select ENSP00000309953.6:p.His141Leu
ENST00000307998.10:c.422A>T ENSP00000309953.6:p.His141Leu
ENST00000526624.5:c.422A>T ENSP00000435419.1:p.His141Leu
ENST00000527378.1:c.422A>T ENSP00000435963.1:p.His141Leu
ENST00000527969.1:n.101A>T
ENST00000528176.5:c.422A>T ENSP00000434151.1:p.His141Leu
ENST00000530850.1:c.*234A>T ENSP00000437238.1:n.*234A>T
ENST00000531005.5:n.1416A>T
ENST00000531972.5:c.422A>T ENSP00000435295.1:p.His141Leu
ENST00000533347.5:c.*234A>T ENSP00000435823.1:n.*234A>T
NM_016938.4:c.422A>T NP_058634.4:p.His141Leu
NR_037718.1:n.681A>T
NM_016938.5:c.422A>T MANE Select NP_058634.4:p.His141Leu
NR_037718.2:n.547A>T
Search 100 bp 5'
Search 100 bp 3'