Canonical Allele Identifier: CA589584912
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1387642946
gnomAD v2: 9-101303838-T-C
gnomAD v3: 9-98541556-T-C
gnomAD v4: 9-98541556-T-C
MyVariant Identifiers: chr9:g.101303838T>C (hg19) chr9:g.98541556T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541556T>C , CM000671.2:g.98541556T>C GRCh38
NC_000009.11:g.101303838T>C , CM000671.1:g.101303838T>C GRCh37
NC_000009.10:g.100343659T>C NCBI36
NG_016426.1:g.172642A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.630+317A>G MANE Select ENSP00000259455.2:n.630+317A>G
ENST00000637410.1:n.408+317A>G
ENST00000259455.3:c.630+317A>G ENSP00000259455.2:n.630+317A>G
ENST00000477471.1:n.417+317A>G
ENST00000634227.1:n.404+317A>G
NM_005458.7:c.630+317A>G NP_005449.5:n.630+317A>G
XM_017015331.2:c.336+317A>G XP_016870820.1:n.336+317A>G
NM_005458.8:c.630+317A>G MANE Select NP_005449.5:n.630+317A>G
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