Canonical Allele Identifier: CA1866994398
Gene: GABBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1588220172
gnomAD v4: 9-98542176-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98542176C>T , CM000671.2:g.98542176C>T GRCh38
NC_000009.11:g.101304458C>T , CM000671.1:g.101304458C>T GRCh37
NC_000009.10:g.100344279C>T NCBI36
NG_016426.1:g.172022G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.460-133G>A MANE Select ENSP00000259455.2:n.460-133G>A
ENST00000637410.1:n.238-133G>A
ENST00000637717.1:c.76-133G>A ENSP00000490789.1:n.76-133G>A
ENST00000638001.1:n.70-133G>A
ENST00000259455.3:c.460-133G>A ENSP00000259455.2:n.460-133G>A
ENST00000477471.1:n.247-133G>A
ENST00000634227.1:n.234-133G>A
NM_005458.7:c.460-133G>A NP_005449.5:n.460-133G>A
XM_017015331.2:c.166-133G>A XP_016870820.1:n.166-133G>A
NM_005458.8:c.460-133G>A MANE Select NP_005449.5:n.460-133G>A
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