Canonical Allele Identifier: CA350304129

Gene: TMEM237

Linked Data

• MyVariant Identifiers: chr2:g.202490758G>T (hg19) ; chr2:g.201626035G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201626035G>T , CM000664.2:g.201626035G>T	GRCh38
NC_000002.11:g.202490758G>T , CM000664.1:g.202490758G>T	GRCh37
NC_000002.10:g.202199003G>T	NCBI36
NG_032049.1:g.22495C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471318.6:n.946C>A
ENST00000621467.5:c.1024C>A	ENSP00000480508.2:p.Leu342Ile
ENST00000686475.1:n.1090C>A
ENST00000409883.7:c.1150C>A MANE Select	ENSP00000386264.2:p.Leu384Ile
ENST00000286196.9:c.*714C>A	ENSP00000286196.5:n.*714C>A
ENST00000409444.6:c.1126C>A	ENSP00000387203.2:p.Leu376Ile
ENST00000409883.6:c.1150C>A	ENSP00000386264.2:p.Leu384Ile
ENST00000471318.5:n.378C>A
ENST00000495329.1:n.289C>A
ENST00000621467.4:c.1126C>A	ENSP00000480508.1:p.Leu376Ile
NM_001044385.2:c.1150C>A	NP_001037850.1:p.Leu384Ile
NM_152388.3:c.1126C>A	NP_689601.2:p.Leu376Ile
NM_001044385.3:c.1150C>A MANE Select	NP_001037850.1:p.Leu384Ile
NM_152388.4:c.1126C>A	NP_689601.2:p.Leu376Ile