Canonical Allele Identifier: CA351016040
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI

Linked Data

ClinVar Variation Id: 487641
ClinVar RCV Id: RCV000576904
dbSNP Id: rs1553578312
MyVariant Identifiers: chr2:g.233409251C>T (hg19) chr2:g.232544541C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232544541C>T , CM000664.2:g.232544541C>T GRCh38
NC_000002.11:g.233409251C>T , CM000664.1:g.233409251C>T GRCh37
NC_000002.10:g.233117495C>T NCBI36
NG_012954.1:g.9815C>T
NG_012954.2:g.9850C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000408957.7:c.*3566G>A (TIGD1) MANE Select ENSP00000386186.3:n.*3566G>A
ENST00000651502.1:c.1210C>T (CHRNG) MANE Select ENSP00000498757.1:p.Gln404Ter
ENST00000389492.3:c.1054C>T (CHRNG) ENSP00000374143.3:p.Gln352Ter
ENST00000389494.7:c.1210C>T (CHRNG) ENSP00000374145.3:p.Gln404Ter
NM_005199.4:c.1210C>T (CHRNG) NP_005190.4:p.Gln404Ter
NM_005199.5:c.1210C>T (CHRNG) MANE Select NP_005190.4:p.Gln404Ter
NM_145702.4:c.*3566G>A (TIGD1) MANE Select NP_663748.1:n.*3566G>A
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Search 100 bp 3'