Canonical Allele Identifier: CA197074108
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs932511740
gnomAD v3: 9-98515242-G-A
gnomAD v4: 9-98515242-G-A
MyVariant Identifiers: chr9:g.98515242G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98515242G>A , CM000671.2:g.98515242G>A GRCh38
NC_000009.11:g.101277524G>A , CM000671.1:g.101277524G>A GRCh37
NC_000009.10:g.100317345G>A NCBI36
NG_016426.1:g.198956C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.631-18728C>T MANE Select ENSP00000259455.2:n.631-18728C>T
ENST00000637410.1:n.409-18728C>T
ENST00000259455.3:c.631-18728C>T ENSP00000259455.2:n.631-18728C>T
ENST00000477471.1:n.418-18728C>T
ENST00000634227.1:n.405-18728C>T
ENST00000634919.1:n.306+752C>T
NM_005458.7:c.631-18728C>T NP_005449.5:n.631-18728C>T
XM_005252316.3:c.-144-18728C>T XP_005252373.1:n.-144-18728C>T
XM_005252316.5:c.-144-18728C>T XP_005252373.1:n.-144-18728C>T
XM_017015331.2:c.337-18728C>T XP_016870820.1:n.337-18728C>T
NM_005458.8:c.631-18728C>T MANE Select NP_005449.5:n.631-18728C>T