Canonical Allele Identifier: CA11195687
Gene: INSIG2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.118102895C>T , CM000664.2:g.118102895C>T GRCh38
NC_000002.11:g.118860471C>T , CM000664.1:g.118860471C>T GRCh37
NC_000002.10:g.118576941C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000245787.9:c.245-302C>T MANE Select ENSP00000245787.4:n.245-302C>T
ENST00000245787.8:c.245-302C>T ENSP00000245787.4:n.245-302C>T
ENST00000411929.5:c.-114-302C>T ENSP00000400126.1:n.-114-302C>T
ENST00000467223.5:n.126-302C>T
ENST00000471186.5:n.69-302C>T
ENST00000485520.5:n.77-302C>T
ENST00000488995.1:n.173+185C>T
ENST00000614681.1:c.245-302C>T ENSP00000484179.1:n.245-302C>T
NM_016133.2:c.245-302C>T NP_057217.2:n.245-302C>T
XM_005263690.2:c.-80-302C>T XP_005263747.1:n.-80-302C>T
XM_011511292.1:c.245-302C>T XP_011509594.1:n.245-302C>T
NM_001321329.1:c.245-302C>T NP_001308258.1:n.245-302C>T
NM_001321330.1:c.-80-302C>T NP_001308259.1:n.-80-302C>T
NM_001321331.1:c.-80-302C>T NP_001308260.1:n.-80-302C>T
NM_001321332.1:c.-80-302C>T NP_001308261.1:n.-80-302C>T
NM_001321333.1:c.-80-302C>T NP_001308262.1:n.-80-302C>T
NM_016133.3:c.245-302C>T NP_057217.2:n.245-302C>T
NM_016133.4:c.245-302C>T MANE Select NP_057217.2:n.245-302C>T
NM_001321329.2:c.245-302C>T NP_001308258.1:n.245-302C>T
NM_001321330.2:c.-80-302C>T NP_001308259.1:n.-80-302C>T
NM_001321331.2:c.-80-302C>T NP_001308260.1:n.-80-302C>T
NM_001321332.2:c.-80-302C>T NP_001308261.1:n.-80-302C>T
NM_001321333.2:c.-80-302C>T NP_001308262.1:n.-80-302C>T
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