Canonical Allele Identifier: CA2169080
Gene: TIGD1 HGNC NCBI
CHRNG HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232545678C>T
GRCh37 chr2:g.233410388C>T
Revel Score:
ENST00000389494 0.405
ENST00000541596 0.405
ENST00000389492 0.405
gnomAD v2:
2:233410388 C / T
gnomAD v3:
2:232545678 C / T
gnomAD v4:
chr2-232545678-C-T
Joint Max Group AF 0.01022054 (SAS)
Genomes Max Group AF 0.00803678 (NFE)
Exomes Max Group AF 0.01028532 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232545678C>T , CM000664.2:g.232545678C>T GRCh38
NC_000002.11:g.233410388C>T , CM000664.1:g.233410388C>T GRCh37
NC_000002.10:g.233118632C>T NCBI36
NG_012954.1:g.10952C>T
NG_012954.2:g.10987C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000408957.7:c.*2429G>A (TIGD1) MANE Select ENSP00000386186.3:n.*2429G>A
ENST00000651502.1:c.1516C>T (CHRNG) MANE Select ENSP00000498757.1:p.Pro506Ser
ENST00000389492.3:c.1360C>T (CHRNG) ENSP00000374143.3:p.Pro454Ser
ENST00000389494.7:c.1516C>T (CHRNG) ENSP00000374145.3:p.Pro506Ser
NM_005199.4:c.1516C>T (CHRNG) NP_005190.4:p.Pro506Ser
NM_005199.5:c.1516C>T (CHRNG) MANE Select NP_005190.4:p.Pro506Ser
NM_145702.4:c.*2429G>A (TIGD1) MANE Select NP_663748.1:n.*2429G>A
Search 100 bp 5'
Search 100 bp 3'