Canonical Allele Identifier: CA350304244

Gene: TMEM237

Linked Data

• gnomAD v4: 2-201626046-G-T
• MyVariant Identifiers: chr2:g.202490769G>T (hg19) ; chr2:g.201626046G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201626046G>T , CM000664.2:g.201626046G>T	GRCh38
NC_000002.11:g.202490769G>T , CM000664.1:g.202490769G>T	GRCh37
NC_000002.10:g.202199014G>T	NCBI36
NG_032049.1:g.22484C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471318.6:n.935C>A
ENST00000621467.5:c.1013C>A	ENSP00000480508.2:p.Pro338Gln
ENST00000686475.1:n.1079C>A
ENST00000409883.7:c.1139C>A MANE Select	ENSP00000386264.2:p.Pro380Gln
ENST00000286196.9:c.*703C>A	ENSP00000286196.5:n.*703C>A
ENST00000409444.6:c.1115C>A	ENSP00000387203.2:p.Pro372Gln
ENST00000409883.6:c.1139C>A	ENSP00000386264.2:p.Pro380Gln
ENST00000471318.5:n.367C>A
ENST00000495329.1:n.278C>A
ENST00000621467.4:c.1115C>A	ENSP00000480508.1:p.Pro372Gln
NM_001044385.2:c.1139C>A	NP_001037850.1:p.Pro380Gln
NM_152388.3:c.1115C>A	NP_689601.2:p.Pro372Gln
NM_001044385.3:c.1139C>A MANE Select	NP_001037850.1:p.Pro380Gln
NM_152388.4:c.1115C>A	NP_689601.2:p.Pro372Gln