Canonical Allele Identifier: CA63949246

Gene: TMEM237 ENO1P4

Linked Data

• dbSNP Id: rs754899894
• gnomAD v4: 2-201623059-C-A
• MyVariant Identifiers: chr2:g.202487782C>A (hg19) ; chr2:g.201623059C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201623059C>A , CM000664.2:g.201623059C>A	GRCh38
NC_000002.11:g.202487782C>A , CM000664.1:g.202487782C>A	GRCh37
NC_000002.10:g.202196027C>A	NCBI36
NG_032049.1:g.25471G>T
NG_051007.1:g.1124G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621467.5:c.*1196G>T (TMEM237)	ENSP00000480508.2:n.*1196G>T
ENST00000686475.1:n.2363G>T (TMEM237)
ENST00000409883.7:c.*1196G>T (TMEM237) MANE Select	ENSP00000386264.2:n.*1196G>T
ENST00000409444.6:c.*1196G>T (TMEM237)	ENSP00000387203.2:n.*1196G>T
ENST00000409883.6:c.*1196G>T (TMEM237)	ENSP00000386264.2:n.*1196G>T
ENST00000416471.2:n.372G>T (ENO1P4)
ENST00000495329.1:n.1562G>T (TMEM237)
NM_001044385.2:c.*1196G>T (TMEM237)	NP_001037850.1:n.*1196G>T
NM_152388.3:c.*1196G>T (TMEM237)	NP_689601.2:n.*1196G>T
NM_001044385.3:c.*1196G>T (TMEM237) MANE Select	NP_001037850.1:n.*1196G>T
NM_152388.4:c.*1196G>T (TMEM237)	NP_689601.2:n.*1196G>T