Canonical Allele Identifier: CA1866885548
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1588111842

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98341355A>C , CM000671.2:g.98341355A>C GRCh38
NC_000009.11:g.101103637A>C , CM000671.1:g.101103637A>C GRCh37
NC_000009.10:g.100143458A>C NCBI36
NG_016426.1:g.372843T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.1893+21360T>G MANE Select ENSP00000259455.2:n.1893+21360T>G
ENST00000637410.1:n.1671+21360T>G
ENST00000259455.3:c.1893+21360T>G ENSP00000259455.2:n.1893+21360T>G
ENST00000634457.1:c.231+21360T>G ENSP00000489352.1:n.231+21360T>G
ENST00000635462.1:n.388+21360T>G
NM_005458.7:c.1893+21360T>G NP_005449.5:n.1893+21360T>G
XM_005252316.3:c.1119+21360T>G XP_005252373.1:n.1119+21360T>G
XM_005252316.5:c.1119+21360T>G XP_005252373.1:n.1119+21360T>G
XM_017015331.2:c.1599+21360T>G XP_016870820.1:n.1599+21360T>G
XM_017015332.2:c.1119+21360T>G XP_016870821.1:n.1119+21360T>G
NM_005458.8:c.1893+21360T>G MANE Select NP_005449.5:n.1893+21360T>G