Canonical Allele Identifier: CA2056327
Gene: TMEM237 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.201627334T>C
GRCh37 chr2:g.202492057T>C
Revel Score:
ENST00000409444 0.292
ENST00000409883 (MANE Select) 0.292
ENST00000435876 0.292
ENST00000426684 0.292
ENST00000409099 0.292
gnomAD v2:
2:202492057 T / C
gnomAD v3:
2:201627334 T / C
gnomAD v4:
chr2-201627334-T-C
Joint Max Group AF 0.00004443 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.0000428 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201627334T>C , CM000664.2:g.201627334T>C GRCh38
NC_000002.11:g.202492057T>C , CM000664.1:g.202492057T>C GRCh37
NC_000002.10:g.202200302T>C NCBI36
NG_032049.1:g.21196A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000471318.6:n.833+742A>G
ENST00000621467.5:c.898A>G ENSP00000480508.2:p.Asn300Asp
ENST00000686475.1:n.964A>G
ENST00000409883.7:c.1024A>G MANE Select ENSP00000386264.2:p.Asn342Asp
ENST00000286196.9:c.*588A>G ENSP00000286196.5:n.*588A>G
ENST00000409444.6:c.1000A>G ENSP00000387203.2:p.Asn334Asp
ENST00000409883.6:c.1024A>G ENSP00000386264.2:p.Asn342Asp
ENST00000471318.5:n.265+742A>G
ENST00000621467.4:c.1000A>G ENSP00000480508.1:p.Asn334Asp
NM_001044385.2:c.1024A>G NP_001037850.1:p.Asn342Asp
NM_152388.3:c.1000A>G NP_689601.2:p.Asn334Asp
NM_001044385.3:c.1024A>G MANE Select NP_001037850.1:p.Asn342Asp
NM_152388.4:c.1000A>G NP_689601.2:p.Asn334Asp
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