Canonical Allele Identifier: CA10612423

Gene: TMEM237 ENO1P4

Linked Data

• ClinVar Variation Id: 333552
• ClinVar RCV Id: RCV000321545
• dbSNP Id: rs143516209
• gnomAD v2: 2-202487871-G-A
• gnomAD v3: 2-201623148-G-A
• gnomAD v4: 2-201623148-G-A
• MyVariant Identifiers: chr2:g.202487871G>A (hg19) ; chr2:g.201623148G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201623148G>A , CM000664.2:g.201623148G>A	GRCh38
NC_000002.11:g.202487871G>A , CM000664.1:g.202487871G>A	GRCh37
NC_000002.10:g.202196116G>A	NCBI36
NG_032049.1:g.25382C>T
NG_051007.1:g.1035C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000621467.5:c.*1107C>T (TMEM237)	ENSP00000480508.2:n.*1107C>T
ENST00000686475.1:n.2274C>T (TMEM237)
ENST00000409883.7:c.*1107C>T (TMEM237) MANE Select	ENSP00000386264.2:n.*1107C>T
ENST00000409444.6:c.*1107C>T (TMEM237)	ENSP00000387203.2:n.*1107C>T
ENST00000409883.6:c.*1107C>T (TMEM237)	ENSP00000386264.2:n.*1107C>T
ENST00000416471.2:n.283C>T (ENO1P4)
ENST00000495329.1:n.1473C>T (TMEM237)
NM_001044385.2:c.*1107C>T (TMEM237)	NP_001037850.1:n.*1107C>T
NM_152388.3:c.*1107C>T (TMEM237)	NP_689601.2:n.*1107C>T
NM_001044385.3:c.*1107C>T (TMEM237) MANE Select	NP_001037850.1:n.*1107C>T
NM_152388.4:c.*1107C>T (TMEM237)	NP_689601.2:n.*1107C>T