Canonical Allele Identifier: CA63950893

Gene: TMEM237

Linked Data

• dbSNP Id: rs1006475828
• gnomAD v2: 2-202490368-GAGTAT-G
• gnomAD v3: 2-201625645-GAGTAT-G
• gnomAD v4: 2-201625645-GAGTAT-G
• MyVariant Identifiers: chr2:g.202490369_202490373del (hg19) ; chr2:g.201625646_201625650del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201625646_201625650del , CM000664.2:g.201625646_201625650del	GRCh38
NC_000002.11:g.202490369_202490373del , CM000664.1:g.202490369_202490373del	GRCh37
NC_000002.10:g.202198614_202198618del	NCBI36
NG_032049.1:g.22880_22884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000471318.6:n.955+376_955+380del
ENST00000621467.5:c.1033+376_1033+380del	ENSP00000480508.2:n.1033+376_1033+380del
ENST00000686475.1:n.1099+376_1099+380del
ENST00000409883.7:c.1159+376_1159+380del MANE Select	ENSP00000386264.2:n.1159+376_1159+380del
ENST00000286196.9:c.*723+376_*723+380del	ENSP00000286196.5:n.*723+376_*723+380del
ENST00000409444.6:c.1135+376_1135+380del	ENSP00000387203.2:n.1135+376_1135+380del
ENST00000409883.6:c.1159+376_1159+380del	ENSP00000386264.2:n.1159+376_1159+380del
ENST00000471318.5:n.387+376_387+380del
ENST00000495329.1:n.298+376_298+380del
ENST00000621467.4:c.1135+376_1135+380del	ENSP00000480508.1:n.1135+376_1135+380del
NM_001044385.2:c.1159+376_1159+380del	NP_001037850.1:n.1159+376_1159+380del
NM_152388.3:c.1135+376_1135+380del	NP_689601.2:n.1135+376_1135+380del
NM_001044385.3:c.1159+376_1159+380del MANE Select	NP_001037850.1:n.1159+376_1159+380del
NM_152388.4:c.1135+376_1135+380del	NP_689601.2:n.1135+376_1135+380del