Canonical Allele Identifier: CA10613138

Gene: TIGD1 CHRNG

Linked Data

• ClinVar Variation Id: 335018
• ClinVar RCV Id: RCV000352602 ; RCV001094722
• dbSNP Id: rs369614677
• gnomAD v2: 2-233410552-C-T
• gnomAD v3: 2-232545842-C-T
• gnomAD v4: 2-232545842-C-T
• MyVariant Identifiers: chr2:g.233410552C>T (hg19) ; chr2:g.232545842C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232545842C>T , CM000664.2:g.232545842C>T	GRCh38
NC_000002.11:g.233410552C>T , CM000664.1:g.233410552C>T	GRCh37
NC_000002.10:g.233118796C>T	NCBI36
NG_012954.1:g.11116C>T
NG_012954.2:g.11151C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000408957.7:c.*2265G>A (TIGD1) MANE Select	ENSP00000386186.3:n.*2265G>A
ENST00000651502.1:c.*126C>T (CHRNG) MANE Select	ENSP00000498757.1:n.*126C>T
ENST00000389494.7:c.*126C>T (CHRNG)	ENSP00000374145.3:n.*126C>T
NM_005199.4:c.*126C>T (CHRNG)	NP_005190.4:n.*126C>T
NM_005199.5:c.*126C>T (CHRNG) MANE Select	NP_005190.4:n.*126C>T
NM_145702.4:c.*2265G>A (TIGD1) MANE Select	NP_663748.1:n.*2265G>A