Canonical Allele Identifier: CA430662359

Gene: TMEM237 ENO1P4

Linked Data

• ClinVar Variation Id: 896188
• ClinVar RCV Id: RCV001138690
• dbSNP Id: rs1957727275
• gnomAD v4: 2-201623315-T-G
• MyVariant Identifiers: chr2:g.202488038T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201623315T>G , CM000664.2:g.201623315T>G	GRCh38
NC_000002.11:g.202488038T>G , CM000664.1:g.202488038T>G	GRCh37
NC_000002.10:g.202196283T>G	NCBI36
NG_032049.1:g.25215A>C
NG_051007.1:g.868A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621467.5:c.*940A>C (TMEM237)	ENSP00000480508.2:n.*940A>C
ENST00000686475.1:n.2107A>C (TMEM237)
ENST00000409883.7:c.*940A>C (TMEM237) MANE Select	ENSP00000386264.2:n.*940A>C
ENST00000409444.6:c.*940A>C (TMEM237)	ENSP00000387203.2:n.*940A>C
ENST00000409883.6:c.*940A>C (TMEM237)	ENSP00000386264.2:n.*940A>C
ENST00000416471.2:n.116A>C (ENO1P4)
ENST00000495329.1:n.1306A>C (TMEM237)
NM_001044385.2:c.*940A>C (TMEM237)	NP_001037850.1:n.*940A>C
NM_152388.3:c.*940A>C (TMEM237)	NP_689601.2:n.*940A>C
NM_001044385.3:c.*940A>C (TMEM237) MANE Select	NP_001037850.1:n.*940A>C
NM_152388.4:c.*940A>C (TMEM237)	NP_689601.2:n.*940A>C