Canonical Allele Identifier: CA10612418

Gene: TMEM237 ENO1P4

Linked Data

• ClinVar Variation Id: 333549
• ClinVar RCV Id: RCV000327284
• dbSNP Id: rs886055444
• gnomAD v4: 2-201622952-C-T
• MyVariant Identifiers: chr2:g.202487675C>T (hg19) ; chr2:g.201622952C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201622952C>T , CM000664.2:g.201622952C>T	GRCh38
NC_000002.11:g.202487675C>T , CM000664.1:g.202487675C>T	GRCh37
NC_000002.10:g.202195920C>T	NCBI36
NG_032049.1:g.25578G>A
NG_051007.1:g.1231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621467.5:c.*1303G>A (TMEM237)	ENSP00000480508.2:n.*1303G>A
ENST00000686475.1:n.2470G>A (TMEM237)
ENST00000409883.7:c.*1303G>A (TMEM237) MANE Select	ENSP00000386264.2:n.*1303G>A
ENST00000409444.6:c.*1303G>A (TMEM237)	ENSP00000387203.2:n.*1303G>A
ENST00000409883.6:c.*1303G>A (TMEM237)	ENSP00000386264.2:n.*1303G>A
ENST00000416471.2:n.479G>A (ENO1P4)
ENST00000495329.1:n.1669G>A (TMEM237)
NM_001044385.2:c.*1303G>A (TMEM237)	NP_001037850.1:n.*1303G>A
NM_152388.3:c.*1303G>A (TMEM237)	NP_689601.2:n.*1303G>A
NM_001044385.3:c.*1303G>A (TMEM237) MANE Select	NP_001037850.1:n.*1303G>A
NM_152388.4:c.*1303G>A (TMEM237)	NP_689601.2:n.*1303G>A