Canonical Allele Identifier: CA1866927816
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1826058000

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98442983del , CM000671.2:g.98442983del GRCh38
NC_000009.11:g.101205265del , CM000671.1:g.101205265del GRCh37
NC_000009.10:g.100245086del NCBI36
NG_016426.1:g.271216del

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.1236+10999del MANE Select ENSP00000259455.2:n.1236+10999del
ENST00000637410.1:n.1014+10999del
ENST00000259455.3:c.1236+10999del ENSP00000259455.2:n.1236+10999del
NM_005458.7:c.1236+10999del NP_005449.5:n.1236+10999del
XM_005252316.3:c.462+10999del XP_005252373.1:n.462+10999del
XM_005252316.5:c.462+10999del XP_005252373.1:n.462+10999del
XM_017015331.2:c.942+10999del XP_016870820.1:n.942+10999del
XM_017015332.2:c.462+10999del XP_016870821.1:n.462+10999del
NM_005458.8:c.1236+10999del MANE Select NP_005449.5:n.1236+10999del