Canonical Allele Identifier: CA55211985
Gene: INSIG2 HGNC NCBI
COSMIC:
COSN6675944 (not active)
MyVariant.info:
GRCh38 chr2:g.118104916T>C
GRCh37 chr2:g.118862492T>C
gnomAD v2:
2:118862492 T / C
gnomAD v3:
2:118104916 T / C
gnomAD v4:
chr2-118104916-T-C
Joint Max Group AF 0.12448754 (AMR)
Genomes Max Group AF 0.12448754 (AMR)
dbSNP:
10490624
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118104916T>C , CM000664.2:g.118104916T>C GRCh38
NC_000002.11:g.118862492T>C , CM000664.1:g.118862492T>C GRCh37
NC_000002.10:g.118578962T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000245787.9:c.369+1595T>C MANE Select ENSP00000245787.4:n.369+1595T>C
ENST00000245787.8:c.369+1595T>C ENSP00000245787.4:n.369+1595T>C
ENST00000411929.5:c.11+1595T>C ENSP00000400126.1:n.11+1595T>C
ENST00000467223.5:n.250+1595T>C
ENST00000471186.5:n.193+1595T>C
ENST00000485520.5:n.201+1595T>C
ENST00000488995.1:n.298+1595T>C
ENST00000614681.1:c.369+1595T>C ENSP00000484179.1:n.369+1595T>C
NM_016133.2:c.369+1595T>C NP_057217.2:n.369+1595T>C
XM_005263690.2:c.45+1595T>C XP_005263747.1:n.45+1595T>C
XM_011511292.1:c.369+1595T>C XP_011509594.1:n.369+1595T>C
NM_001321329.1:c.369+1595T>C NP_001308258.1:n.369+1595T>C
NM_001321330.1:c.45+1595T>C NP_001308259.1:n.45+1595T>C
NM_001321331.1:c.45+1595T>C NP_001308260.1:n.45+1595T>C
NM_001321332.1:c.45+1595T>C NP_001308261.1:n.45+1595T>C
NM_001321333.1:c.45+1595T>C NP_001308262.1:n.45+1595T>C
NM_016133.3:c.369+1595T>C NP_057217.2:n.369+1595T>C
NM_016133.4:c.369+1595T>C MANE Select NP_057217.2:n.369+1595T>C
NM_001321329.2:c.369+1595T>C NP_001308258.1:n.369+1595T>C
NM_001321330.2:c.45+1595T>C NP_001308259.1:n.45+1595T>C
NM_001321331.2:c.45+1595T>C NP_001308260.1:n.45+1595T>C
NM_001321332.2:c.45+1595T>C NP_001308261.1:n.45+1595T>C
NM_001321333.2:c.45+1595T>C NP_001308262.1:n.45+1595T>C
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