Canonical Allele Identifier: CA63949436

Gene: TMEM237 ENO1P4

Linked Data

• dbSNP Id: rs556545833
• gnomAD v3: 2-201623180-T-G
• gnomAD v4: 2-201623180-T-G
• MyVariant Identifiers: chr2:g.202487903T>G (hg19) ; chr2:g.201623180T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201623180T>G , CM000664.2:g.201623180T>G	GRCh38
NC_000002.11:g.202487903T>G , CM000664.1:g.202487903T>G	GRCh37
NC_000002.10:g.202196148T>G	NCBI36
NG_032049.1:g.25350A>C
NG_051007.1:g.1003A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621467.5:c.*1075A>C (TMEM237)	ENSP00000480508.2:n.*1075A>C
ENST00000686475.1:n.2242A>C (TMEM237)
ENST00000409883.7:c.*1075A>C (TMEM237) MANE Select	ENSP00000386264.2:n.*1075A>C
ENST00000409444.6:c.*1075A>C (TMEM237)	ENSP00000387203.2:n.*1075A>C
ENST00000409883.6:c.*1075A>C (TMEM237)	ENSP00000386264.2:n.*1075A>C
ENST00000416471.2:n.251A>C (ENO1P4)
ENST00000495329.1:n.1441A>C (TMEM237)
NM_001044385.2:c.*1075A>C (TMEM237)	NP_001037850.1:n.*1075A>C
NM_152388.3:c.*1075A>C (TMEM237)	NP_689601.2:n.*1075A>C
NM_001044385.3:c.*1075A>C (TMEM237) MANE Select	NP_001037850.1:n.*1075A>C
NM_152388.4:c.*1075A>C (TMEM237)	NP_689601.2:n.*1075A>C