Canonical Allele Identifier: CA538949558

Gene: TMEM237

Linked Data

• ClinVar Variation Id: 2075603
• ClinVar RCV Id: RCV002982520
• dbSNP Id: rs1352518639
• gnomAD v2: 2-202504993-C-T
• gnomAD v4: 2-201640270-C-T
• MyVariant Identifiers: chr2:g.202504993C>T (hg19) ; chr2:g.201640270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201640270C>T , CM000664.2:g.201640270C>T	GRCh38
NC_000002.11:g.202504993C>T , CM000664.1:g.202504993C>T	GRCh37
NC_000002.10:g.202213238C>T	NCBI36
NG_032049.1:g.8260G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000621467.5:c.-356+623G>A	ENSP00000480508.2:n.-356+623G>A
ENST00000409883.7:c.75-5G>A MANE Select	ENSP00000386264.2:n.75-5G>A
ENST00000286196.9:c.-1+623G>A	ENSP00000286196.5:n.-1+623G>A
ENST00000409444.6:c.51-5G>A	ENSP00000387203.2:n.51-5G>A
ENST00000409883.6:c.75-5G>A	ENSP00000386264.2:n.75-5G>A
ENST00000432684.6:c.75-5G>A	ENSP00000413230.2:n.75-5G>A
ENST00000444047.6:c.75-5G>A	ENSP00000402681.2:n.75-5G>A
ENST00000463205.2:n.78-5G>A
ENST00000489550.5:n.92+623G>A
ENST00000621467.4:c.50+623G>A	ENSP00000480508.1:n.50+623G>A
NM_001044385.2:c.75-5G>A	NP_001037850.1:n.75-5G>A
NM_152388.3:c.51-5G>A	NP_689601.2:n.51-5G>A
NM_001044385.3:c.75-5G>A MANE Select	NP_001037850.1:n.75-5G>A
NM_152388.4:c.51-5G>A	NP_689601.2:n.51-5G>A