Canonical Allele Identifier: CA2169032
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232544900A>G
GRCh37 chr2:g.233409610A>G
Revel Score:
ENST00000389494 0.242
ENST00000541596 0.242
ENST00000389492 0.242
gnomAD v2:
2:233409610 A / G
gnomAD v3:
2:232544900 A / G
gnomAD v4:
chr2-232544900-A-G
Joint Max Group AF 0.00196739 (SAS)
Genomes Max Group AF 0.00207953 (SAS)
Exomes Max Group AF 0.00190246 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232544900A>G , CM000664.2:g.232544900A>G GRCh38
NC_000002.11:g.233409610A>G , CM000664.1:g.233409610A>G GRCh37
NC_000002.10:g.233117854A>G NCBI36
NG_012954.1:g.10174A>G
NG_012954.2:g.10209A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000408957.7:c.*3207T>C (TIGD1) MANE Select ENSP00000386186.3:n.*3207T>C
ENST00000651502.1:c.1378A>G (CHRNG) MANE Select ENSP00000498757.1:p.Asn460Asp
ENST00000389492.3:c.1222A>G (CHRNG) ENSP00000374143.3:p.Asn408Asp
ENST00000389494.7:c.1378A>G (CHRNG) ENSP00000374145.3:p.Asn460Asp
NM_005199.4:c.1378A>G (CHRNG) NP_005190.4:p.Asn460Asp
NM_005199.5:c.1378A>G (CHRNG) MANE Select NP_005190.4:p.Asn460Asp
NM_145702.4:c.*3207T>C (TIGD1) MANE Select NP_663748.1:n.*3207T>C
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