Canonical Allele Identifier: CA2056302
Gene: TMEM237 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.201626095C>T
GRCh37 chr2:g.202490818C>T
Revel Score:
ENST00000409444 0.247
ENST00000409883 (MANE Select) 0.247
ENST00000435876 0.247
ENST00000426684 0.247
ENST00000409099 0.247
gnomAD v2:
2:202490818 C / T
gnomAD v3:
2:201626095 C / T
gnomAD v4:
chr2-201626095-C-T
Joint Max Group AF 0.00548362 (AFR)
Genomes Max Group AF 0.00561656 (AFR)
Exomes Max Group AF 0.00491046 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201626095C>T , CM000664.2:g.201626095C>T GRCh38
NC_000002.11:g.202490818C>T , CM000664.1:g.202490818C>T GRCh37
NC_000002.10:g.202199063C>T NCBI36
NG_032049.1:g.22435G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000471318.6:n.886G>A
ENST00000621467.5:c.964G>A ENSP00000480508.2:p.Val322Met
ENST00000686475.1:n.1030G>A
ENST00000409883.7:c.1090G>A MANE Select ENSP00000386264.2:p.Val364Met
ENST00000286196.9:c.*654G>A ENSP00000286196.5:n.*654G>A
ENST00000409444.6:c.1066G>A ENSP00000387203.2:p.Val356Met
ENST00000409883.6:c.1090G>A ENSP00000386264.2:p.Val364Met
ENST00000471318.5:n.318G>A
ENST00000495329.1:n.229G>A
ENST00000621467.4:c.1066G>A ENSP00000480508.1:p.Val356Met
NM_001044385.2:c.1090G>A NP_001037850.1:p.Val364Met
NM_152388.3:c.1066G>A NP_689601.2:p.Val356Met
NM_001044385.3:c.1090G>A MANE Select NP_001037850.1:p.Val364Met
NM_152388.4:c.1066G>A NP_689601.2:p.Val356Met
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