Canonical Allele Identifier: CA430664592

Gene: TMEM237

Linked Data

• MyVariant Identifiers: chr2:g.202490867T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201626144T>C , CM000664.2:g.201626144T>C	GRCh38
NC_000002.11:g.202490867T>C , CM000664.1:g.202490867T>C	GRCh37
NC_000002.10:g.202199112T>C	NCBI36
NG_032049.1:g.22386A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471318.6:n.837A>G
ENST00000621467.5:c.915A>G	ENSP00000480508.2:p.Glu305=
ENST00000686475.1:n.981A>G
ENST00000409883.7:c.1041A>G MANE Select	ENSP00000386264.2:p.Glu347=
ENST00000286196.9:c.*605A>G	ENSP00000286196.5:n.*605A>G
ENST00000409444.6:c.1017A>G	ENSP00000387203.2:p.Glu339=
ENST00000409883.6:c.1041A>G	ENSP00000386264.2:p.Glu347=
ENST00000471318.5:n.269A>G
ENST00000495329.1:n.180A>G
ENST00000621467.4:c.1017A>G	ENSP00000480508.1:p.Glu339=
NM_001044385.2:c.1041A>G	NP_001037850.1:p.Glu347=
NM_152388.3:c.1017A>G	NP_689601.2:p.Glu339=
NM_001044385.3:c.1041A>G MANE Select	NP_001037850.1:p.Glu347=
NM_152388.4:c.1017A>G	NP_689601.2:p.Glu339=