Canonical Allele Identifier: CA5152409
Gene: GABBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 462135
ClinVar RCV Id: RCV000534327
dbSNP Id: rs201116009
ExAC: 9:101056057 A / C
gnomAD v2: 9-101056057-A-C
gnomAD v3: 9-98293775-A-C
gnomAD v4: 9-98293775-A-C
MyVariant Identifiers: chr9:g.101056057A>C (hg19) chr9:g.98293775A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98293775A>C , CM000671.2:g.98293775A>C GRCh38
NC_000009.11:g.101056057A>C , CM000671.1:g.101056057A>C GRCh37
NC_000009.10:g.100095878A>C NCBI36
NG_016426.1:g.420423T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.2660+10T>G MANE Select ENSP00000259455.2:n.2660+10T>G
ENST00000637410.1:n.2438+10T>G
ENST00000259455.3:c.2660+10T>G ENSP00000259455.2:n.2660+10T>G
NM_005458.7:c.2660+10T>G NP_005449.5:n.2660+10T>G
XM_005252316.3:c.1886+10T>G XP_005252373.1:n.1886+10T>G
XM_005252316.5:c.1886+10T>G XP_005252373.1:n.1886+10T>G
XM_017015331.2:c.2366+10T>G XP_016870820.1:n.2366+10T>G
XM_017015332.2:c.1886+10T>G XP_016870821.1:n.1886+10T>G
NM_005458.8:c.2660+10T>G MANE Select NP_005449.5:n.2660+10T>G
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