Canonical Allele Identifier: CA350304368

Gene: TMEM237

Linked Data

• gnomAD v4: 2-201626064-A-G
• MyVariant Identifiers: chr2:g.202490787A>G (hg19) ; chr2:g.201626064A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201626064A>G , CM000664.2:g.201626064A>G	GRCh38
NC_000002.11:g.202490787A>G , CM000664.1:g.202490787A>G	GRCh37
NC_000002.10:g.202199032A>G	NCBI36
NG_032049.1:g.22466T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000471318.6:n.917T>C
ENST00000621467.5:c.995T>C	ENSP00000480508.2:p.Leu332Pro
ENST00000686475.1:n.1061T>C
ENST00000409883.7:c.1121T>C MANE Select	ENSP00000386264.2:p.Leu374Pro
ENST00000286196.9:c.*685T>C	ENSP00000286196.5:n.*685T>C
ENST00000409444.6:c.1097T>C	ENSP00000387203.2:p.Leu366Pro
ENST00000409883.6:c.1121T>C	ENSP00000386264.2:p.Leu374Pro
ENST00000471318.5:n.349T>C
ENST00000495329.1:n.260T>C
ENST00000621467.4:c.1097T>C	ENSP00000480508.1:p.Leu366Pro
NM_001044385.2:c.1121T>C	NP_001037850.1:p.Leu374Pro
NM_152388.3:c.1097T>C	NP_689601.2:p.Leu366Pro
NM_001044385.3:c.1121T>C MANE Select	NP_001037850.1:p.Leu374Pro
NM_152388.4:c.1097T>C	NP_689601.2:p.Leu366Pro