Canonical Allele Identifier: CA538949561

Gene: TMEM237

Linked Data

• dbSNP Id: rs1320688613
• gnomAD v2: 2-202505002-T-C
• gnomAD v3: 2-201640279-T-C
• gnomAD v4: 2-201640279-T-C
• MyVariant Identifiers: chr2:g.202505002T>C (hg19) ; chr2:g.201640279T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201640279T>C , CM000664.2:g.201640279T>C	GRCh38
NC_000002.11:g.202505002T>C , CM000664.1:g.202505002T>C	GRCh37
NC_000002.10:g.202213247T>C	NCBI36
NG_032049.1:g.8251A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000621467.5:c.-356+614A>G	ENSP00000480508.2:n.-356+614A>G
ENST00000409883.7:c.75-14A>G MANE Select	ENSP00000386264.2:n.75-14A>G
ENST00000286196.9:c.-1+614A>G	ENSP00000286196.5:n.-1+614A>G
ENST00000409444.6:c.51-14A>G	ENSP00000387203.2:n.51-14A>G
ENST00000409883.6:c.75-14A>G	ENSP00000386264.2:n.75-14A>G
ENST00000432684.6:c.75-14A>G	ENSP00000413230.2:n.75-14A>G
ENST00000444047.6:c.75-14A>G	ENSP00000402681.2:n.75-14A>G
ENST00000463205.2:n.78-14A>G
ENST00000489550.5:n.92+614A>G
ENST00000621467.4:c.50+614A>G	ENSP00000480508.1:n.50+614A>G
NM_001044385.2:c.75-14A>G	NP_001037850.1:n.75-14A>G
NM_152388.3:c.51-14A>G	NP_689601.2:n.51-14A>G
NM_001044385.3:c.75-14A>G MANE Select	NP_001037850.1:n.75-14A>G
NM_152388.4:c.51-14A>G	NP_689601.2:n.51-14A>G