Canonical Allele Identifier: CA196822360
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs10986018
gnomAD v3: 9-98361054-T-C
gnomAD v4: 9-98361054-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98361054T>C , CM000671.2:g.98361054T>C GRCh38
NC_000009.11:g.101123336T>C , CM000671.1:g.101123336T>C GRCh37
NC_000009.10:g.100163157T>C NCBI36
NG_016426.1:g.353144A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.1893+1661A>G MANE Select ENSP00000259455.2:n.1893+1661A>G
ENST00000637410.1:n.1671+1661A>G
ENST00000259455.3:c.1893+1661A>G ENSP00000259455.2:n.1893+1661A>G
ENST00000634457.1:c.231+1661A>G ENSP00000489352.1:n.231+1661A>G
ENST00000635462.1:n.388+1661A>G
NM_005458.7:c.1893+1661A>G NP_005449.5:n.1893+1661A>G
XM_005252316.3:c.1119+1661A>G XP_005252373.1:n.1119+1661A>G
XM_005252316.5:c.1119+1661A>G XP_005252373.1:n.1119+1661A>G
XM_017015331.2:c.1599+1661A>G XP_016870820.1:n.1599+1661A>G
XM_017015332.2:c.1119+1661A>G XP_016870821.1:n.1119+1661A>G
NM_005458.8:c.1893+1661A>G MANE Select NP_005449.5:n.1893+1661A>G