Canonical Allele Identifier: CA2579398243
Gene: GABBR2 HGNC NCBI

Linked Data

gnomAD v4: 9-98542143-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98542143A>G , CM000671.2:g.98542143A>G GRCh38
NC_000009.11:g.101304425A>G , CM000671.1:g.101304425A>G GRCh37
NC_000009.10:g.100344246A>G NCBI36
NG_016426.1:g.172055T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.460-100T>C MANE Select ENSP00000259455.2:n.460-100T>C
ENST00000637410.1:n.238-100T>C
ENST00000637717.1:c.76-100T>C ENSP00000490789.1:n.76-100T>C
ENST00000638001.1:n.70-100T>C
ENST00000259455.3:c.460-100T>C ENSP00000259455.2:n.460-100T>C
ENST00000477471.1:n.247-100T>C
ENST00000634227.1:n.234-100T>C
NM_005458.7:c.460-100T>C NP_005449.5:n.460-100T>C
XM_017015331.2:c.166-100T>C XP_016870820.1:n.166-100T>C
NM_005458.8:c.460-100T>C MANE Select NP_005449.5:n.460-100T>C