Canonical Allele Identifier: CA869071395
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1468377144
gnomAD v3: 9-98541697-G-A
gnomAD v4: 9-98541697-G-A
MyVariant Identifiers: chr9:g.101303979G>A (hg19) chr9:g.98541697G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541697G>A , CM000671.2:g.98541697G>A GRCh38
NC_000009.11:g.101303979G>A , CM000671.1:g.101303979G>A GRCh37
NC_000009.10:g.100343800G>A NCBI36
NG_016426.1:g.172501C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.630+176C>T MANE Select ENSP00000259455.2:n.630+176C>T
ENST00000637410.1:n.408+176C>T
ENST00000259455.3:c.630+176C>T ENSP00000259455.2:n.630+176C>T
ENST00000477471.1:n.417+176C>T
ENST00000634227.1:n.404+176C>T
NM_005458.7:c.630+176C>T NP_005449.5:n.630+176C>T
XM_017015331.2:c.336+176C>T XP_016870820.1:n.336+176C>T
NM_005458.8:c.630+176C>T MANE Select NP_005449.5:n.630+176C>T
Search 100 bp 5'
Search 100 bp 3'