Canonical Allele Identifier: CA350304345

Gene: TMEM237

Linked Data

• MyVariant Identifiers: chr2:g.202490784A>C (hg19) ; chr2:g.201626061A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201626061A>C , CM000664.2:g.201626061A>C	GRCh38
NC_000002.11:g.202490784A>C , CM000664.1:g.202490784A>C	GRCh37
NC_000002.10:g.202199029A>C	NCBI36
NG_032049.1:g.22469T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000471318.6:n.920T>G
ENST00000621467.5:c.998T>G	ENSP00000480508.2:p.Phe333Cys
ENST00000686475.1:n.1064T>G
ENST00000409883.7:c.1124T>G MANE Select	ENSP00000386264.2:p.Phe375Cys
ENST00000286196.9:c.*688T>G	ENSP00000286196.5:n.*688T>G
ENST00000409444.6:c.1100T>G	ENSP00000387203.2:p.Phe367Cys
ENST00000409883.6:c.1124T>G	ENSP00000386264.2:p.Phe375Cys
ENST00000471318.5:n.352T>G
ENST00000495329.1:n.263T>G
ENST00000621467.4:c.1100T>G	ENSP00000480508.1:p.Phe367Cys
NM_001044385.2:c.1124T>G	NP_001037850.1:p.Phe375Cys
NM_152388.3:c.1100T>G	NP_689601.2:p.Phe367Cys
NM_001044385.3:c.1124T>G MANE Select	NP_001037850.1:p.Phe375Cys
NM_152388.4:c.1100T>G	NP_689601.2:p.Phe367Cys