Canonical Allele Identifier: CA196807554
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1011608916

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98341400T>C , CM000671.2:g.98341400T>C GRCh38
NC_000009.11:g.101103682T>C , CM000671.1:g.101103682T>C GRCh37
NC_000009.10:g.100143503T>C NCBI36
NG_016426.1:g.372798A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.1893+21315A>G MANE Select ENSP00000259455.2:n.1893+21315A>G
ENST00000637410.1:n.1671+21315A>G
ENST00000259455.3:c.1893+21315A>G ENSP00000259455.2:n.1893+21315A>G
ENST00000634457.1:c.231+21315A>G ENSP00000489352.1:n.231+21315A>G
ENST00000635462.1:n.388+21315A>G
NM_005458.7:c.1893+21315A>G NP_005449.5:n.1893+21315A>G
XM_005252316.3:c.1119+21315A>G XP_005252373.1:n.1119+21315A>G
XM_005252316.5:c.1119+21315A>G XP_005252373.1:n.1119+21315A>G
XM_017015331.2:c.1599+21315A>G XP_016870820.1:n.1599+21315A>G
XM_017015332.2:c.1119+21315A>G XP_016870821.1:n.1119+21315A>G
NM_005458.8:c.1893+21315A>G MANE Select NP_005449.5:n.1893+21315A>G