Canonical Allele Identifier: CA538946409

Gene: TMEM237

Linked Data

• dbSNP Id: rs1484139590
• gnomAD v2: 2-202490991-T-A
• gnomAD v3: 2-201626268-T-A
• gnomAD v4: 2-201626268-T-A
• MyVariant Identifiers: chr2:g.202490991T>A (hg19) ; chr2:g.201626268T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201626268T>A , CM000664.2:g.201626268T>A	GRCh38
NC_000002.11:g.202490991T>A , CM000664.1:g.202490991T>A	GRCh37
NC_000002.10:g.202199236T>A	NCBI36
NG_032049.1:g.22262A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471318.6:n.834-121A>T
ENST00000621467.5:c.912-121A>T	ENSP00000480508.2:n.912-121A>T
ENST00000686475.1:n.978-121A>T
ENST00000409883.7:c.1038-121A>T MANE Select	ENSP00000386264.2:n.1038-121A>T
ENST00000286196.9:c.*602-121A>T	ENSP00000286196.5:n.*602-121A>T
ENST00000409444.6:c.1014-121A>T	ENSP00000387203.2:n.1014-121A>T
ENST00000409883.6:c.1038-121A>T	ENSP00000386264.2:n.1038-121A>T
ENST00000471318.5:n.266-121A>T
ENST00000495329.1:n.56A>T
ENST00000621467.4:c.1014-121A>T	ENSP00000480508.1:n.1014-121A>T
NM_001044385.2:c.1038-121A>T	NP_001037850.1:n.1038-121A>T
NM_152388.3:c.1014-121A>T	NP_689601.2:n.1014-121A>T
NM_001044385.3:c.1038-121A>T MANE Select	NP_001037850.1:n.1038-121A>T
NM_152388.4:c.1014-121A>T	NP_689601.2:n.1014-121A>T