Canonical Allele Identifier: CA6954549
Gene: FREM2 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.38689477G>A
GRCh37 chr13:g.39263614G>A
Revel Score:
ENST00000280481 (MANE Select) 0.141
gnomAD v2:
13:39263614 G / A
gnomAD v3:
13:38689477 G / A
gnomAD v4:
chr13-38689477-G-A
Joint Max Group AF 0.00655579 (AFR)
Genomes Max Group AF 0.00678187 (AFR)
Exomes Max Group AF 0.00583111 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.38689477G>A , CM000675.2:g.38689477G>A GRCh38
NC_000013.10:g.39263614G>A , CM000675.1:g.39263614G>A GRCh37
NC_000013.9:g.38161614G>A NCBI36
NG_008125.2:g.7442G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000280481.9:c.2133G>A MANE Select ENSP00000280481.7:p.Met711Ile
ENST00000280481.8:c.2133G>A ENSP00000280481.7:p.Met711Ile
NM_207361.5:c.2133G>A NP_997244.4:p.Met711Ile
XM_011535057.1:c.2133G>A XP_011533359.1:p.Met711Ile
XR_941571.1:n.2441G>A
XM_017020554.1:c.2133G>A XP_016876043.1:p.Met711Ile
XR_941571.2:n.2437G>A
NM_207361.6:c.2133G>A MANE Select NP_997244.4:p.Met711Ile
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