Canonical Allele Identifier: CA10612433

Gene: TMEM237

Linked Data

• ClinVar Variation Id: 333560
• ClinVar RCV Id: RCV000290602
• dbSNP Id: rs886055447
• gnomAD v4: 2-201626070-G-C
• MyVariant Identifiers: chr2:g.202490793G>C (hg19) ; chr2:g.201626070G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201626070G>C , CM000664.2:g.201626070G>C	GRCh38
NC_000002.11:g.202490793G>C , CM000664.1:g.202490793G>C	GRCh37
NC_000002.10:g.202199038G>C	NCBI36
NG_032049.1:g.22460C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471318.6:n.911C>G
ENST00000621467.5:c.989C>G	ENSP00000480508.2:p.Ser330Cys
ENST00000686475.1:n.1055C>G
ENST00000409883.7:c.1115C>G MANE Select	ENSP00000386264.2:p.Ser372Cys
ENST00000286196.9:c.*679C>G	ENSP00000286196.5:n.*679C>G
ENST00000409444.6:c.1091C>G	ENSP00000387203.2:p.Ser364Cys
ENST00000409883.6:c.1115C>G	ENSP00000386264.2:p.Ser372Cys
ENST00000471318.5:n.343C>G
ENST00000495329.1:n.254C>G
ENST00000621467.4:c.1091C>G	ENSP00000480508.1:p.Ser364Cys
NM_001044385.2:c.1115C>G	NP_001037850.1:p.Ser372Cys
NM_152388.3:c.1091C>G	NP_689601.2:p.Ser364Cys
NM_001044385.3:c.1115C>G MANE Select	NP_001037850.1:p.Ser372Cys
NM_152388.4:c.1091C>G	NP_689601.2:p.Ser364Cys