Canonical Allele Identifier: CA10613141
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 335024
ClinVar RCV Id: RCV000269175
dbSNP Id: rs1553578775
gnomAD v4: 2-232546304-T-TCC
MyVariant Identifiers: chr2:g.233411015_233411016dupCC (hg19) chr2:g.233411016_233411017insCC (hg19) chr2:g.232546305_232546306dupCC (hg38) chr2:g.232546306_232546307insCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232546305_232546306dup , CM000664.2:g.232546305_232546306dup GRCh38
NC_000002.11:g.233411015_233411016dup , CM000664.1:g.233411015_233411016dup GRCh37
NC_000002.10:g.233119259_233119260dup NCBI36
NG_012954.1:g.11579_11580dup
NG_012954.2:g.11614_11615dup

Transcript Alleles

HGVS Amino-acid change
ENST00000408957.7:c.*1801_*1802dup (TIGD1) MANE Select ENSP00000386186.3:n.*1801_*1802dup
ENST00000651502.1:c.*589_*590dup (CHRNG) MANE Select ENSP00000498757.1:n.*589_*590dup
ENST00000389494.7:c.*589_*590dup (CHRNG) ENSP00000374145.3:n.*589_*590dup
NM_005199.4:c.*589_*590dup (CHRNG) NP_005190.4:n.*589_*590dup
NM_005199.5:c.*589_*590dup (CHRNG) MANE Select NP_005190.4:n.*589_*590dup
NM_145702.4:c.*1801_*1802dup (TIGD1) MANE Select NP_663748.1:n.*1801_*1802dup
Search 100 bp 5'
Search 100 bp 3'