Canonical Allele Identifier: CA260003

Gene: TMEM237

Linked Data

• ClinVar Variation Id: 31181
• ClinVar RCV Id: RCV000024180
• dbSNP Id: rs793888505
• MyVariant Identifiers: chr2:g.202494451C>A (hg19) ; chr2:g.201629728C>A (hg38)
• PubMed: PMID:14760273 ; PMID:22152675

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201629728C>A , CM000664.2:g.201629728C>A	GRCh38
NC_000002.11:g.202494451C>A , CM000664.1:g.202494451C>A	GRCh37
NC_000002.10:g.202202696C>A	NCBI36
NG_032049.1:g.18802G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471318.6:n.567+1G>T
ENST00000621467.5:c.551+1G>T	ENSP00000480508.2:n.551+1G>T
ENST00000686475.1:n.617+1G>T
ENST00000409883.7:c.677+1G>T MANE Select	ENSP00000386264.2:n.677+1G>T
ENST00000286196.9:c.*241+1G>T	ENSP00000286196.5:n.*241+1G>T
ENST00000409444.6:c.653+1G>T	ENSP00000387203.2:n.653+1G>T
ENST00000409883.6:c.677+1G>T	ENSP00000386264.2:n.677+1G>T
ENST00000432684.6:c.*476+1G>T	ENSP00000413230.2:n.*476+1G>T
ENST00000466641.5:n.375+1G>T
ENST00000466839.5:n.545+1G>T
ENST00000621467.4:c.653+1G>T	ENSP00000480508.1:n.653+1G>T
NM_001044385.2:c.677+1G>T	NP_001037850.1:n.677+1G>T
NM_152388.3:c.653+1G>T	NP_689601.2:n.653+1G>T
NM_001044385.3:c.677+1G>T MANE Select	NP_001037850.1:n.677+1G>T
NM_152388.4:c.653+1G>T	NP_689601.2:n.653+1G>T