Canonical Allele Identifier: CA1127178197
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1831210334
gnomAD v3: 9-98341334-C-T
gnomAD v4: 9-98341334-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98341334C>T , CM000671.2:g.98341334C>T GRCh38
NC_000009.11:g.101103616C>T , CM000671.1:g.101103616C>T GRCh37
NC_000009.10:g.100143437C>T NCBI36
NG_016426.1:g.372864G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000259455.4:c.1893+21381G>A MANE Select ENSP00000259455.2:n.1893+21381G>A
ENST00000637410.1:n.1671+21381G>A
ENST00000259455.3:c.1893+21381G>A ENSP00000259455.2:n.1893+21381G>A
ENST00000634457.1:c.231+21381G>A ENSP00000489352.1:n.231+21381G>A
ENST00000635462.1:n.388+21381G>A
NM_005458.7:c.1893+21381G>A NP_005449.5:n.1893+21381G>A
XM_005252316.3:c.1119+21381G>A XP_005252373.1:n.1119+21381G>A
XM_005252316.5:c.1119+21381G>A XP_005252373.1:n.1119+21381G>A
XM_017015331.2:c.1599+21381G>A XP_016870820.1:n.1599+21381G>A
XM_017015332.2:c.1119+21381G>A XP_016870821.1:n.1119+21381G>A
NM_005458.8:c.1893+21381G>A MANE Select NP_005449.5:n.1893+21381G>A
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