Canonical Allele Identifier: CA350304629

Gene: TMEM237

Linked Data

• ClinVar Variation Id: 1346033
• ClinVar RCV Id: RCV002029805
• dbSNP Id: rs1957756642
• MyVariant Identifiers: chr2:g.202490830C>G (hg19) ; chr2:g.201626107C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201626107C>G , CM000664.2:g.201626107C>G	GRCh38
NC_000002.11:g.202490830C>G , CM000664.1:g.202490830C>G	GRCh37
NC_000002.10:g.202199075C>G	NCBI36
NG_032049.1:g.22423G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471318.6:n.874G>C
ENST00000621467.5:c.952G>C	ENSP00000480508.2:p.Val318Leu
ENST00000686475.1:n.1018G>C
ENST00000409883.7:c.1078G>C MANE Select	ENSP00000386264.2:p.Val360Leu
ENST00000286196.9:c.*642G>C	ENSP00000286196.5:n.*642G>C
ENST00000409444.6:c.1054G>C	ENSP00000387203.2:p.Val352Leu
ENST00000409883.6:c.1078G>C	ENSP00000386264.2:p.Val360Leu
ENST00000471318.5:n.306G>C
ENST00000495329.1:n.217G>C
ENST00000621467.4:c.1054G>C	ENSP00000480508.1:p.Val352Leu
NM_001044385.2:c.1078G>C	NP_001037850.1:p.Val360Leu
NM_152388.3:c.1054G>C	NP_689601.2:p.Val352Leu
NM_001044385.3:c.1078G>C MANE Select	NP_001037850.1:p.Val360Leu
NM_152388.4:c.1054G>C	NP_689601.2:p.Val352Leu