Canonical Allele Identifier: CA350304834

Gene: TMEM237

Linked Data

• MyVariant Identifiers: chr2:g.202490860T>G (hg19) ; chr2:g.201626137T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201626137T>G , CM000664.2:g.201626137T>G	GRCh38
NC_000002.11:g.202490860T>G , CM000664.1:g.202490860T>G	GRCh37
NC_000002.10:g.202199105T>G	NCBI36
NG_032049.1:g.22393A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471318.6:n.844A>C
ENST00000621467.5:c.922A>C	ENSP00000480508.2:p.Ile308Leu
ENST00000686475.1:n.988A>C
ENST00000409883.7:c.1048A>C MANE Select	ENSP00000386264.2:p.Ile350Leu
ENST00000286196.9:c.*612A>C	ENSP00000286196.5:n.*612A>C
ENST00000409444.6:c.1024A>C	ENSP00000387203.2:p.Ile342Leu
ENST00000409883.6:c.1048A>C	ENSP00000386264.2:p.Ile350Leu
ENST00000471318.5:n.276A>C
ENST00000495329.1:n.187A>C
ENST00000621467.4:c.1024A>C	ENSP00000480508.1:p.Ile342Leu
NM_001044385.2:c.1048A>C	NP_001037850.1:p.Ile350Leu
NM_152388.3:c.1024A>C	NP_689601.2:p.Ile342Leu
NM_001044385.3:c.1048A>C MANE Select	NP_001037850.1:p.Ile350Leu
NM_152388.4:c.1024A>C	NP_689601.2:p.Ile342Leu