Canonical Allele Identifier: CA350304316

Gene: TMEM237

Linked Data

• gnomAD v4: 2-201626057-C-A
• MyVariant Identifiers: chr2:g.202490780C>A (hg19) ; chr2:g.201626057C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201626057C>A , CM000664.2:g.201626057C>A	GRCh38
NC_000002.11:g.202490780C>A , CM000664.1:g.202490780C>A	GRCh37
NC_000002.10:g.202199025C>A	NCBI36
NG_032049.1:g.22473G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000471318.6:n.924G>T
ENST00000621467.5:c.1002G>T	ENSP00000480508.2:p.Leu334Phe
ENST00000686475.1:n.1068G>T
ENST00000409883.7:c.1128G>T MANE Select	ENSP00000386264.2:p.Leu376Phe
ENST00000286196.9:c.*692G>T	ENSP00000286196.5:n.*692G>T
ENST00000409444.6:c.1104G>T	ENSP00000387203.2:p.Leu368Phe
ENST00000409883.6:c.1128G>T	ENSP00000386264.2:p.Leu376Phe
ENST00000471318.5:n.356G>T
ENST00000495329.1:n.267G>T
ENST00000621467.4:c.1104G>T	ENSP00000480508.1:p.Leu368Phe
NM_001044385.2:c.1128G>T	NP_001037850.1:p.Leu376Phe
NM_152388.3:c.1104G>T	NP_689601.2:p.Leu368Phe
NM_001044385.3:c.1128G>T MANE Select	NP_001037850.1:p.Leu376Phe
NM_152388.4:c.1104G>T	NP_689601.2:p.Leu368Phe