Canonical Allele Identifier: CA15088397
Gene: GBP2 HGNC NCBI
COSMIC:
COSN6472297 (not active)
MyVariant.info:
GRCh38 chr1:g.89122697A>G
GRCh37 chr1:g.89588380A>G
gnomAD v2:
1:89588380 A / G
gnomAD v3:
1:89122697 A / G
gnomAD v4:
chr1-89122697-A-G
Joint Max Group AF 0.49305469 (NFE)
Genomes Max Group AF 0.49305469 (NFE)
dbSNP:
10922573
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.89122697A>G , CM000663.2:g.89122697A>G GRCh38
NC_000001.10:g.89588380A>G , CM000663.1:g.89588380A>G GRCh37
NC_000001.9:g.89360968A>G NCBI36
NG_046995.1:g.8463T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370466.4:c.-17-714T>C MANE Select ENSP00000359497.3:n.-17-714T>C
ENST00000370466.3:c.-17-714T>C ENSP00000359497.3:n.-17-714T>C
ENST00000464839.5:c.-17-714T>C ENSP00000434282.1:n.-17-714T>C
NM_004120.4:c.-17-714T>C NP_004111.2:n.-17-714T>C
XR_002958570.1:n.4086A>G
NM_004120.5:c.-17-714T>C MANE Select NP_004111.2:n.-17-714T>C
Search 100 bp 5'
Search 100 bp 3'