Canonical Allele Identifier: CA15220331

Gene: INSIG2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118099338A>G , CM000664.2:g.118099338A>G	GRCh38
NC_000002.11:g.118856914A>G , CM000664.1:g.118856914A>G	GRCh37
NC_000002.10:g.118573384A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245787.9:c.244+2538A>G MANE Select	ENSP00000245787.4:n.244+2538A>G
ENST00000245787.8:c.244+2538A>G	ENSP00000245787.4:n.244+2538A>G
ENST00000411929.5:c.-114-3859A>G	ENSP00000400126.1:n.-114-3859A>G
ENST00000467223.5:n.125+2912A>G
ENST00000471186.5:n.69-3859A>G
ENST00000485520.5:n.76+2912A>G
ENST00000614681.1:c.244+2538A>G	ENSP00000484179.1:n.244+2538A>G
NM_016133.2:c.244+2538A>G	NP_057217.2:n.244+2538A>G
XM_005263690.2:c.-81+2912A>G	XP_005263747.1:n.-81+2912A>G
XM_011511292.1:c.244+2538A>G	XP_011509594.1:n.244+2538A>G
NM_001321329.1:c.244+2538A>G	NP_001308258.1:n.244+2538A>G
NM_001321330.1:c.-80-3859A>G	NP_001308259.1:n.-80-3859A>G
NM_001321331.1:c.-81+2912A>G	NP_001308260.1:n.-81+2912A>G
NM_001321332.1:c.-81+2912A>G	NP_001308261.1:n.-81+2912A>G
NM_001321333.1:c.-81+2912A>G	NP_001308262.1:n.-81+2912A>G
NM_016133.3:c.244+2538A>G	NP_057217.2:n.244+2538A>G
NM_016133.4:c.244+2538A>G MANE Select	NP_057217.2:n.244+2538A>G
NM_001321329.2:c.244+2538A>G	NP_001308258.1:n.244+2538A>G
NM_001321330.2:c.-80-3859A>G	NP_001308259.1:n.-80-3859A>G
NM_001321331.2:c.-81+2912A>G	NP_001308260.1:n.-81+2912A>G
NM_001321332.2:c.-81+2912A>G	NP_001308261.1:n.-81+2912A>G
NM_001321333.2:c.-81+2912A>G	NP_001308262.1:n.-81+2912A>G