Canonical Allele Identifier: CA2056307

Gene: TMEM237

Linked Data

• dbSNP Id: rs765010894
• ExAC: 2:202490851 G / C
• gnomAD v2: 2-202490851-G-C
• gnomAD v4: 2-201626128-G-C
• MyVariant Identifiers: chr2:g.202490851G>C (hg19) ; chr2:g.201626128G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201626128G>C , CM000664.2:g.201626128G>C	GRCh38
NC_000002.11:g.202490851G>C , CM000664.1:g.202490851G>C	GRCh37
NC_000002.10:g.202199096G>C	NCBI36
NG_032049.1:g.22402C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471318.6:n.853C>G
ENST00000621467.5:c.931C>G	ENSP00000480508.2:p.Gln311Glu
ENST00000686475.1:n.997C>G
ENST00000409883.7:c.1057C>G MANE Select	ENSP00000386264.2:p.Gln353Glu
ENST00000286196.9:c.*621C>G	ENSP00000286196.5:n.*621C>G
ENST00000409444.6:c.1033C>G	ENSP00000387203.2:p.Gln345Glu
ENST00000409883.6:c.1057C>G	ENSP00000386264.2:p.Gln353Glu
ENST00000471318.5:n.285C>G
ENST00000495329.1:n.196C>G
ENST00000621467.4:c.1033C>G	ENSP00000480508.1:p.Gln345Glu
NM_001044385.2:c.1057C>G	NP_001037850.1:p.Gln353Glu
NM_152388.3:c.1033C>G	NP_689601.2:p.Gln345Glu
NM_001044385.3:c.1057C>G MANE Select	NP_001037850.1:p.Gln353Glu
NM_152388.4:c.1033C>G	NP_689601.2:p.Gln345Glu