Canonical Allele Identifier: CA12994575
Gene: GABBR2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.98555639C>T
GRCh37 chr9:g.101317921C>T
gnomAD v2:
9:101317921 C / T
gnomAD v3:
9:98555639 C / T
gnomAD v4:
chr9-98555639-C-T
Joint Max Group AF 0.27929837 (AFR)
Genomes Max Group AF 0.27928778 (AFR)
Exomes Max Group AF 0.14217199 (NFE)
dbSNP:
2900512
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98555639C>T , CM000671.2:g.98555639C>T GRCh38
NC_000009.11:g.101317921C>T , CM000671.1:g.101317921C>T GRCh37
NC_000009.10:g.100357742C>T NCBI36
NG_016426.1:g.158559G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.460-13596G>A MANE Select ENSP00000259455.2:n.460-13596G>A
ENST00000637410.1:n.238-13596G>A
ENST00000637717.1:c.76-13596G>A ENSP00000490789.1:n.76-13596G>A
ENST00000259455.3:c.460-13596G>A ENSP00000259455.2:n.460-13596G>A
ENST00000477471.1:n.246+14G>A
ENST00000634227.1:n.234-13596G>A
NM_005458.7:c.460-13596G>A NP_005449.5:n.460-13596G>A
XM_017015331.2:c.165+14G>A XP_016870820.1:n.165+14G>A
NM_005458.8:c.460-13596G>A MANE Select NP_005449.5:n.460-13596G>A
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