Canonical Allele Identifier: CA2169102
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI

Linked Data

dbSNP Id: rs749601749
ExAC: 2:233410466 TG / T
gnomAD v2: 2-233410466-TG-T
gnomAD v3: 2-232545756-TG-T
gnomAD v4: 2-232545756-TG-T
MyVariant Identifiers: chr2:g.233410467del (hg19) chr2:g.232545757del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232545759del , CM000664.2:g.232545759del GRCh38
NC_000002.11:g.233410469del , CM000664.1:g.233410469del GRCh37
NC_000002.10:g.233118713del NCBI36
NG_012954.1:g.11033del
NG_012954.2:g.11068del

Transcript Alleles

HGVS Amino-acid Change
ENST00000408957.7:c.*2350del (TIGD1) MANE Select ENSP00000386186.3:n.*2350del
ENST00000651502.1:c.*43del (CHRNG) MANE Select ENSP00000498757.1:n.*43del
ENST00000389494.7:c.*43del (CHRNG) ENSP00000374145.3:n.*43del
NM_005199.4:c.*43del (CHRNG) NP_005190.4:n.*43del
NM_005199.5:c.*43del (CHRNG) MANE Select NP_005190.4:n.*43del
NM_145702.4:c.*2350del (TIGD1) MANE Select NP_663748.1:n.*2350del
Search 100 bp 5'
Search 100 bp 3'