Canonical Allele Identifier: CA430664092

Gene: TMEM237

Linked Data

• dbSNP Id: rs1362523533
• gnomAD v2: 2-202490786-T-C
• gnomAD v3: 2-201626063-T-C
• gnomAD v4: 2-201626063-T-C
• MyVariant Identifiers: chr2:g.202490786T>C (hg19) ; chr2:g.201626063T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201626063T>C , CM000664.2:g.201626063T>C	GRCh38
NC_000002.11:g.202490786T>C , CM000664.1:g.202490786T>C	GRCh37
NC_000002.10:g.202199031T>C	NCBI36
NG_032049.1:g.22467A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471318.6:n.918A>G
ENST00000621467.5:c.996A>G	ENSP00000480508.2:p.Leu332=
ENST00000686475.1:n.1062A>G
ENST00000409883.7:c.1122A>G MANE Select	ENSP00000386264.2:p.Leu374=
ENST00000286196.9:c.*686A>G	ENSP00000286196.5:n.*686A>G
ENST00000409444.6:c.1098A>G	ENSP00000387203.2:p.Leu366=
ENST00000409883.6:c.1122A>G	ENSP00000386264.2:p.Leu374=
ENST00000471318.5:n.350A>G
ENST00000495329.1:n.261A>G
ENST00000621467.4:c.1098A>G	ENSP00000480508.1:p.Leu366=
NM_001044385.2:c.1122A>G	NP_001037850.1:p.Leu374=
NM_152388.3:c.1098A>G	NP_689601.2:p.Leu366=
NM_001044385.3:c.1122A>G MANE Select	NP_001037850.1:p.Leu374=
NM_152388.4:c.1098A>G	NP_689601.2:p.Leu366=