Canonical Allele Identifier: CA63949637

Gene: TMEM237

Linked Data

• dbSNP Id: rs920476490
• gnomAD v2: 2-202488193-G-T
• gnomAD v3: 2-201623470-G-T
• gnomAD v4: 2-201623470-G-T
• MyVariant Identifiers: chr2:g.202488193G>T (hg19) ; chr2:g.201623470G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201623470G>T , CM000664.2:g.201623470G>T	GRCh38
NC_000002.11:g.202488193G>T , CM000664.1:g.202488193G>T	GRCh37
NC_000002.10:g.202196438G>T	NCBI36
NG_032049.1:g.25060C>A
NG_051007.1:g.713C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621467.5:c.*785C>A	ENSP00000480508.2:n.*785C>A
ENST00000686475.1:n.1952C>A
ENST00000409883.7:c.*785C>A MANE Select	ENSP00000386264.2:n.*785C>A
ENST00000409444.6:c.*785C>A	ENSP00000387203.2:n.*785C>A
ENST00000409883.6:c.*785C>A	ENSP00000386264.2:n.*785C>A
ENST00000495329.1:n.1151C>A
NM_001044385.2:c.*785C>A	NP_001037850.1:n.*785C>A
NM_152388.3:c.*785C>A	NP_689601.2:n.*785C>A
NM_001044385.3:c.*785C>A MANE Select	NP_001037850.1:n.*785C>A
NM_152388.4:c.*785C>A	NP_689601.2:n.*785C>A