Canonical Allele Identifier: CA430664067
Gene: TMEM237 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.202490782A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201626059A>G , CM000664.2:g.201626059A>G GRCh38
NC_000002.11:g.202490782A>G , CM000664.1:g.202490782A>G GRCh37
NC_000002.10:g.202199027A>G NCBI36
NG_032049.1:g.22471T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000471318.6:n.922T>C
ENST00000621467.5:c.1000T>C ENSP00000480508.2:p.Leu334=
ENST00000686475.1:n.1066T>C
ENST00000409883.7:c.1126T>C MANE Select ENSP00000386264.2:p.Leu376=
ENST00000286196.9:c.*690T>C ENSP00000286196.5:n.*690T>C
ENST00000409444.6:c.1102T>C ENSP00000387203.2:p.Leu368=
ENST00000409883.6:c.1126T>C ENSP00000386264.2:p.Leu376=
ENST00000471318.5:n.354T>C
ENST00000495329.1:n.265T>C
ENST00000621467.4:c.1102T>C ENSP00000480508.1:p.Leu368=
NM_001044385.2:c.1126T>C NP_001037850.1:p.Leu376=
NM_152388.3:c.1102T>C NP_689601.2:p.Leu368=
NM_001044385.3:c.1126T>C MANE Select NP_001037850.1:p.Leu376=
NM_152388.4:c.1102T>C NP_689601.2:p.Leu368=