Canonical Allele Identifier: CA539386565

Gene: TMEM237 ENO1P4

Linked Data

• dbSNP Id: rs1438848348
• gnomAD v2: 2-202487999-TCTC-T
• gnomAD v3: 2-201623276-TCTC-T
• gnomAD v4: 2-201623276-TCTC-T
• MyVariant Identifiers: chr2:g.202488000_202488002del (hg19) ; chr2:g.201623277_201623279del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201623280_201623282del , CM000664.2:g.201623280_201623282del	GRCh38
NC_000002.11:g.202488003_202488005del , CM000664.1:g.202488003_202488005del	GRCh37
NC_000002.10:g.202196248_202196250del	NCBI36
NG_032049.1:g.25251_25253del
NG_051007.1:g.904_906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621467.5:c.*976_*978del (TMEM237)	ENSP00000480508.2:n.*976_*978del
ENST00000686475.1:n.2143_2145del (TMEM237)
ENST00000409883.7:c.*976_*978del (TMEM237) MANE Select	ENSP00000386264.2:n.*976_*978del
ENST00000409444.6:c.*976_*978del (TMEM237)	ENSP00000387203.2:n.*976_*978del
ENST00000409883.6:c.*976_*978del (TMEM237)	ENSP00000386264.2:n.*976_*978del
ENST00000416471.2:n.152_154del (ENO1P4)
ENST00000495329.1:n.1342_1344del (TMEM237)
NM_001044385.2:c.*976_*978del (TMEM237)	NP_001037850.1:n.*976_*978del
NM_152388.3:c.*976_*978del (TMEM237)	NP_689601.2:n.*976_*978del
NM_001044385.3:c.*976_*978del (TMEM237) MANE Select	NP_001037850.1:n.*976_*978del
NM_152388.4:c.*976_*978del (TMEM237)	NP_689601.2:n.*976_*978del