Canonical Allele Identifier: CA350314130

Gene: TMEM237

Linked Data

• ClinVar Variation Id: 451176
• ClinVar RCV Id: RCV000519206 ; RCV001345807
• dbSNP Id: rs1553660992
• gnomAD v4: 2-201633376-A-C
• MyVariant Identifiers: chr2:g.202498099A>C (hg19) ; chr2:g.201633376A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201633376A>C , CM000664.2:g.201633376A>C	GRCh38
NC_000002.11:g.202498099A>C , CM000664.1:g.202498099A>C	GRCh37
NC_000002.10:g.202206344A>C	NCBI36
NG_032049.1:g.15154T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000471318.6:n.220T>G
ENST00000621467.5:c.204T>G	ENSP00000480508.2:p.Asn68Lys
ENST00000686475.1:n.166T>G
ENST00000409883.7:c.330T>G MANE Select	ENSP00000386264.2:p.Asn110Lys
ENST00000286196.9:c.251T>G	ENSP00000286196.5:p.Met84Arg
ENST00000409444.6:c.306T>G	ENSP00000387203.2:p.Asn102Lys
ENST00000409883.6:c.330T>G	ENSP00000386264.2:p.Asn110Lys
ENST00000432684.6:c.*129T>G	ENSP00000413230.2:n.*129T>G
ENST00000444047.6:c.*140T>G	ENSP00000402681.2:n.*140T>G
ENST00000466641.5:n.28T>G
ENST00000489550.5:n.433T>G
ENST00000621467.4:c.306T>G	ENSP00000480508.1:p.Asn102Lys
NM_001044385.2:c.330T>G	NP_001037850.1:p.Asn110Lys
NM_152388.3:c.306T>G	NP_689601.2:p.Asn102Lys
NM_001044385.3:c.330T>G MANE Select	NP_001037850.1:p.Asn110Lys
NM_152388.4:c.306T>G	NP_689601.2:p.Asn102Lys