Canonical Allele Identifier: CA2579398227
Gene: GABBR2 HGNC NCBI

Linked Data

gnomAD v4: 9-98542090-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98542090G>T , CM000671.2:g.98542090G>T GRCh38
NC_000009.11:g.101304372G>T , CM000671.1:g.101304372G>T GRCh37
NC_000009.10:g.100344193G>T NCBI36
NG_016426.1:g.172108C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.460-47C>A MANE Select ENSP00000259455.2:n.460-47C>A
ENST00000637410.1:n.238-47C>A
ENST00000637717.1:c.76-47C>A ENSP00000490789.1:n.76-47C>A
ENST00000638001.1:n.70-47C>A
ENST00000259455.3:c.460-47C>A ENSP00000259455.2:n.460-47C>A
ENST00000477471.1:n.247-47C>A
ENST00000634227.1:n.234-47C>A
NM_005458.7:c.460-47C>A NP_005449.5:n.460-47C>A
XM_017015331.2:c.166-47C>A XP_016870820.1:n.166-47C>A
NM_005458.8:c.460-47C>A MANE Select NP_005449.5:n.460-47C>A