Canonical Allele Identifier: CA350304823

Gene: TMEM237

Linked Data

• dbSNP Id: rs1202574375
• gnomAD v2: 2-202490859-A-G
• gnomAD v4: 2-201626136-A-G
• MyVariant Identifiers: chr2:g.202490859A>G (hg19) ; chr2:g.201626136A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201626136A>G , CM000664.2:g.201626136A>G	GRCh38
NC_000002.11:g.202490859A>G , CM000664.1:g.202490859A>G	GRCh37
NC_000002.10:g.202199104A>G	NCBI36
NG_032049.1:g.22394T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471318.6:n.845T>C
ENST00000621467.5:c.923T>C	ENSP00000480508.2:p.Ile308Thr
ENST00000686475.1:n.989T>C
ENST00000409883.7:c.1049T>C MANE Select	ENSP00000386264.2:p.Ile350Thr
ENST00000286196.9:c.*613T>C	ENSP00000286196.5:n.*613T>C
ENST00000409444.6:c.1025T>C	ENSP00000387203.2:p.Ile342Thr
ENST00000409883.6:c.1049T>C	ENSP00000386264.2:p.Ile350Thr
ENST00000471318.5:n.277T>C
ENST00000495329.1:n.188T>C
ENST00000621467.4:c.1025T>C	ENSP00000480508.1:p.Ile342Thr
NM_001044385.2:c.1049T>C	NP_001037850.1:p.Ile350Thr
NM_152388.3:c.1025T>C	NP_689601.2:p.Ile342Thr
NM_001044385.3:c.1049T>C MANE Select	NP_001037850.1:p.Ile350Thr
NM_152388.4:c.1025T>C	NP_689601.2:p.Ile342Thr