Canonical Allele Identifier: CA538945383

Gene: TMEM237

Linked Data

• dbSNP Id: rs1421074112
• gnomAD v2: 2-202488172-T-G
• gnomAD v3: 2-201623449-T-G
• gnomAD v4: 2-201623449-T-G
• MyVariant Identifiers: chr2:g.202488172T>G (hg19) ; chr2:g.201623449T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201623449T>G , CM000664.2:g.201623449T>G	GRCh38
NC_000002.11:g.202488172T>G , CM000664.1:g.202488172T>G	GRCh37
NC_000002.10:g.202196417T>G	NCBI36
NG_032049.1:g.25081A>C
NG_051007.1:g.734A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621467.5:c.*806A>C	ENSP00000480508.2:n.*806A>C
ENST00000686475.1:n.1973A>C
ENST00000409883.7:c.*806A>C MANE Select	ENSP00000386264.2:n.*806A>C
ENST00000409444.6:c.*806A>C	ENSP00000387203.2:n.*806A>C
ENST00000409883.6:c.*806A>C	ENSP00000386264.2:n.*806A>C
ENST00000495329.1:n.1172A>C
NM_001044385.2:c.*806A>C	NP_001037850.1:n.*806A>C
NM_152388.3:c.*806A>C	NP_689601.2:n.*806A>C
NM_001044385.3:c.*806A>C MANE Select	NP_001037850.1:n.*806A>C
NM_152388.4:c.*806A>C	NP_689601.2:n.*806A>C