Canonical Allele Identifier: CA2056583
Gene: TMEM237 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.201639028G>A
GRCh37 chr2:g.202503751G>A
Revel Score:
ENST00000409444 0.106
ENST00000409883 (MANE Select) 0.106
ENST00000435876 0.106
ENST00000426684 0.106
ENST00000409099 0.106
gnomAD v2:
2:202503751 G / A
gnomAD v3:
2:201639028 G / A
gnomAD v4:
chr2-201639028-G-A
Joint Max Group AF 0.00486939 (MID)
Genomes Max Group AF 0.00363539 (AFR)
Exomes Max Group AF 0.00511915 (MID)
ClinVar RCV:
RCV000413936
RCV000945894
ClinVar Variation:
373720
dbSNP:
200714434
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201639028G>A , CM000664.2:g.201639028G>A GRCh38
NC_000002.11:g.202503751G>A , CM000664.1:g.202503751G>A GRCh37
NC_000002.10:g.202211996G>A NCBI36
NG_032049.1:g.9502C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000621467.5:c.-338C>T ENSP00000480508.2:n.-338C>T
ENST00000409883.7:c.97C>T MANE Select ENSP00000386264.2:p.Arg33Cys
ENST00000286196.9:c.18C>T ENSP00000286196.5:p.Val6=
ENST00000409444.6:c.73C>T ENSP00000387203.2:p.Arg25Cys
ENST00000409883.6:c.97C>T ENSP00000386264.2:p.Arg33Cys
ENST00000432684.6:c.97C>T ENSP00000413230.2:p.Arg33Cys
ENST00000444047.6:c.97C>T ENSP00000402681.2:p.Arg33Cys
ENST00000463205.2:n.100C>T
ENST00000480124.1:n.4C>T
ENST00000489550.5:n.110C>T
ENST00000621467.4:c.73C>T ENSP00000480508.1:p.Arg25Cys
NM_001044385.2:c.97C>T NP_001037850.1:p.Arg33Cys
NM_152388.3:c.73C>T NP_689601.2:p.Arg25Cys
NM_001044385.3:c.97C>T MANE Select NP_001037850.1:p.Arg33Cys
NM_152388.4:c.73C>T NP_689601.2:p.Arg25Cys
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