Canonical Allele Identifier: CA13034842
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs2491397
gnomAD v3: 9-98442880-C-T
gnomAD v4: 9-98442880-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98442880C>T , CM000671.2:g.98442880C>T GRCh38
NC_000009.11:g.101205162C>T , CM000671.1:g.101205162C>T GRCh37
NC_000009.10:g.100244983C>T NCBI36
NG_016426.1:g.271318G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.1236+11101G>A MANE Select ENSP00000259455.2:n.1236+11101G>A
ENST00000637410.1:n.1014+11101G>A
ENST00000259455.3:c.1236+11101G>A ENSP00000259455.2:n.1236+11101G>A
NM_005458.7:c.1236+11101G>A NP_005449.5:n.1236+11101G>A
XM_005252316.3:c.462+11101G>A XP_005252373.1:n.462+11101G>A
XM_005252316.5:c.462+11101G>A XP_005252373.1:n.462+11101G>A
XM_017015331.2:c.942+11101G>A XP_016870820.1:n.942+11101G>A
XM_017015332.2:c.462+11101G>A XP_016870821.1:n.462+11101G>A
NM_005458.8:c.1236+11101G>A MANE Select NP_005449.5:n.1236+11101G>A