Canonical Allele Identifier: CA2169095

Gene: TIGD1 CHRNG

Linked Data

• dbSNP Id: rs752911626
• ExAC: 2:233410457 T / TGGAAA
• MyVariant Identifiers: chr2:g.233410457_233410458insGGAAA (hg19) ; chr2:g.232545747_232545748insGGAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232545747_232545748insGGAAA , CM000664.2:g.232545747_232545748insGGAAA	GRCh38
NC_000002.11:g.233410457_233410458insGGAAA , CM000664.1:g.233410457_233410458insGGAAA	GRCh37
NC_000002.10:g.233118701_233118702insGGAAA	NCBI36
NG_012954.1:g.11021_11022insGGAAA
NG_012954.2:g.11056_11057insGGAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000408957.7:c.*2359_*2360insTTTCC (TIGD1) MANE Select	ENSP00000386186.3:n.*2359_*2360insTTTCC
ENST00000651502.1:c.*31_*32insGGAAA (CHRNG) MANE Select	ENSP00000498757.1:n.*31_*32insGGAAA
ENST00000389494.7:c.*31_*32insGGAAA (CHRNG)	ENSP00000374145.3:n.*31_*32insGGAAA
NM_005199.4:c.*31_*32insGGAAA (CHRNG)	NP_005190.4:n.*31_*32insGGAAA
NM_005199.5:c.*31_*32insGGAAA (CHRNG) MANE Select	NP_005190.4:n.*31_*32insGGAAA
NM_145702.4:c.*2359_*2360insTTTCC (TIGD1) MANE Select	NP_663748.1:n.*2359_*2360insTTTCC