Canonical Allele Identifier: CA535548404

Gene: INSIG2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118090265G>T , CM000664.2:g.118090265G>T	GRCh38
NC_000002.11:g.118847841G>T , CM000664.1:g.118847841G>T	GRCh37
NC_000002.10:g.118564311G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245787.9:c.-139+1724G>T MANE Select	ENSP00000245787.4:n.-139+1724G>T
ENST00000245787.8:c.-139+1724G>T	ENSP00000245787.4:n.-139+1724G>T
ENST00000411929.5:c.-115+1724G>T	ENSP00000400126.1:n.-115+1724G>T
ENST00000467223.5:n.117+1599G>T
ENST00000471186.5:n.68+1724G>T
ENST00000485520.5:n.68+1724G>T
NM_016133.2:c.-139+1724G>T	NP_057217.2:n.-139+1724G>T
XM_005263690.2:c.-89+1724G>T	XP_005263747.1:n.-89+1724G>T
XM_011511292.1:c.-139+1599G>T	XP_011509594.1:n.-139+1599G>T
NM_001321329.1:c.-139+1599G>T	NP_001308258.1:n.-139+1599G>T
NM_001321330.1:c.-81+1724G>T	NP_001308259.1:n.-81+1724G>T
NM_001321331.1:c.-89+1724G>T	NP_001308260.1:n.-89+1724G>T
NM_001321332.1:c.-89+1599G>T	NP_001308261.1:n.-89+1599G>T
NM_001321333.1:c.-89+1724G>T	NP_001308262.1:n.-89+1724G>T
NM_016133.3:c.-139+1724G>T	NP_057217.2:n.-139+1724G>T
NM_016133.4:c.-139+1724G>T MANE Select	NP_057217.2:n.-139+1724G>T
NM_001321329.2:c.-139+1599G>T	NP_001308258.1:n.-139+1599G>T
NM_001321330.2:c.-81+1724G>T	NP_001308259.1:n.-81+1724G>T
NM_001321331.2:c.-89+1724G>T	NP_001308260.1:n.-89+1724G>T
NM_001321332.2:c.-89+1599G>T	NP_001308261.1:n.-89+1599G>T
NM_001321333.2:c.-89+1724G>T	NP_001308262.1:n.-89+1724G>T