Canonical Allele Identifier: CA197076906
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs189681808
gnomAD v2: 9-101304099-G-T
gnomAD v3: 9-98541817-G-T
gnomAD v4: 9-98541817-G-T
MyVariant Identifiers: chr9:g.101304099G>T (hg19) chr9:g.98541817G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541817G>T , CM000671.2:g.98541817G>T GRCh38
NC_000009.11:g.101304099G>T , CM000671.1:g.101304099G>T GRCh37
NC_000009.10:g.100343920G>T NCBI36
NG_016426.1:g.172381C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.630+56C>A MANE Select ENSP00000259455.2:n.630+56C>A
ENST00000637410.1:n.408+56C>A
ENST00000259455.3:c.630+56C>A ENSP00000259455.2:n.630+56C>A
ENST00000477471.1:n.417+56C>A
ENST00000634227.1:n.404+56C>A
NM_005458.7:c.630+56C>A NP_005449.5:n.630+56C>A
XM_017015331.2:c.336+56C>A XP_016870820.1:n.336+56C>A
NM_005458.8:c.630+56C>A MANE Select NP_005449.5:n.630+56C>A
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