Canonical Allele Identifier: CA350304330

Gene: TMEM237

Linked Data

• MyVariant Identifiers: chr2:g.202490781A>C (hg19) ; chr2:g.201626058A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201626058A>C , CM000664.2:g.201626058A>C	GRCh38
NC_000002.11:g.202490781A>C , CM000664.1:g.202490781A>C	GRCh37
NC_000002.10:g.202199026A>C	NCBI36
NG_032049.1:g.22472T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000471318.6:n.923T>G
ENST00000621467.5:c.1001T>G	ENSP00000480508.2:p.Leu334Trp
ENST00000686475.1:n.1067T>G
ENST00000409883.7:c.1127T>G MANE Select	ENSP00000386264.2:p.Leu376Trp
ENST00000286196.9:c.*691T>G	ENSP00000286196.5:n.*691T>G
ENST00000409444.6:c.1103T>G	ENSP00000387203.2:p.Leu368Trp
ENST00000409883.6:c.1127T>G	ENSP00000386264.2:p.Leu376Trp
ENST00000471318.5:n.355T>G
ENST00000495329.1:n.266T>G
ENST00000621467.4:c.1103T>G	ENSP00000480508.1:p.Leu368Trp
NM_001044385.2:c.1127T>G	NP_001037850.1:p.Leu376Trp
NM_152388.3:c.1103T>G	NP_689601.2:p.Leu368Trp
NM_001044385.3:c.1127T>G MANE Select	NP_001037850.1:p.Leu376Trp
NM_152388.4:c.1103T>G	NP_689601.2:p.Leu368Trp