Canonical Allele Identifier: CA1022722
Gene: TSPAN2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.115058900T>C
GRCh37 chr1:g.115601521T>C
Revel Score:
ENST00000369516 (MANE Select) 0.155
ENST00000369515 0.155
ENST00000433172 0.155
ENST00000369514 0.155
gnomAD v2:
1:115601521 T / C
gnomAD v3:
1:115058900 T / C
gnomAD v4:
chr1-115058900-T-C
Joint Max Group AF 0.00001107 (NFE)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00001012 (NFE)
ClinVar RCV:
RCV004180342
ClinVar Variation:
2338025
dbSNP:
779947188
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115058900T>C , CM000663.2:g.115058900T>C GRCh38
NC_000001.10:g.115601521T>C , CM000663.1:g.115601521T>C GRCh37
NC_000001.9:g.115403044T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369516.7:c.427A>G MANE Select ENSP00000358529.2:p.Ile143Val
ENST00000369515.6:c.352A>G ENSP00000358528.2:p.Ile118Val
ENST00000369516.6:c.427A>G ENSP00000358529.2:p.Ile143Val
ENST00000433172.3:c.409A>G ENSP00000415256.1:p.Ile137Val
NM_001308315.1:c.352A>G NP_001295244.1:p.Ile118Val
NM_001308316.1:c.427A>G NP_001295245.1:p.Ile143Val
NM_005725.4:c.427A>G NP_005716.2:p.Ile143Val
NM_005725.5:c.427A>G NP_005716.2:p.Ile143Val
XM_016999996.1:c.352A>G XP_016855485.1:p.Ile118Val
NM_005725.6:c.427A>G MANE Select NP_005716.2:p.Ile143Val
NM_001308315.2:c.352A>G NP_001295244.1:p.Ile118Val
NM_001308316.2:c.427A>G NP_001295245.1:p.Ile143Val
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