Canonical Allele Identifier: CA589347247
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1161086191
gnomAD v3: 9-98380618-G-A
gnomAD v4: 9-98380618-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98380618G>A , CM000671.2:g.98380618G>A GRCh38
NC_000009.11:g.101142900G>A , CM000671.1:g.101142900G>A GRCh37
NC_000009.10:g.100182721G>A NCBI36
NG_016426.1:g.333580C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.1662+5022C>T MANE Select ENSP00000259455.2:n.1662+5022C>T
ENST00000637410.1:n.1440+5022C>T
ENST00000259455.3:c.1662+5022C>T ENSP00000259455.2:n.1662+5022C>T
ENST00000634314.1:n.167+5022C>T
NM_005458.7:c.1662+5022C>T NP_005449.5:n.1662+5022C>T
XM_005252316.3:c.888+5022C>T XP_005252373.1:n.888+5022C>T
XM_005252316.5:c.888+5022C>T XP_005252373.1:n.888+5022C>T
XM_017015331.2:c.1368+5022C>T XP_016870820.1:n.1368+5022C>T
XM_017015332.2:c.888+5022C>T XP_016870821.1:n.888+5022C>T
NM_005458.8:c.1662+5022C>T MANE Select NP_005449.5:n.1662+5022C>T