Canonical Allele Identifier: CA589544412
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1422251373
gnomAD v2: 9-101303825-T-G
gnomAD v3: 9-98541543-T-G
gnomAD v4: 9-98541543-T-G
MyVariant Identifiers: chr9:g.101303825T>G (hg19) chr9:g.98541543T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541543T>G , CM000671.2:g.98541543T>G GRCh38
NC_000009.11:g.101303825T>G , CM000671.1:g.101303825T>G GRCh37
NC_000009.10:g.100343646T>G NCBI36
NG_016426.1:g.172655A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.630+330A>C MANE Select ENSP00000259455.2:n.630+330A>C
ENST00000637410.1:n.408+330A>C
ENST00000259455.3:c.630+330A>C ENSP00000259455.2:n.630+330A>C
ENST00000477471.1:n.417+330A>C
ENST00000634227.1:n.404+330A>C
NM_005458.7:c.630+330A>C NP_005449.5:n.630+330A>C
XM_017015331.2:c.336+330A>C XP_016870820.1:n.336+330A>C
NM_005458.8:c.630+330A>C MANE Select NP_005449.5:n.630+330A>C
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