Canonical Allele Identifier: CA2579398207
Gene: GABBR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541782C>G , CM000671.2:g.98541782C>G GRCh38
NC_000009.11:g.101304064C>G , CM000671.1:g.101304064C>G GRCh37
NC_000009.10:g.100343885C>G NCBI36
NG_016426.1:g.172416G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.630+91G>C MANE Select ENSP00000259455.2:n.630+91G>C
ENST00000637410.1:n.408+91G>C
ENST00000259455.3:c.630+91G>C ENSP00000259455.2:n.630+91G>C
ENST00000477471.1:n.417+91G>C
ENST00000634227.1:n.404+91G>C
NM_005458.7:c.630+91G>C NP_005449.5:n.630+91G>C
XM_017015331.2:c.336+91G>C XP_016870820.1:n.336+91G>C
NM_005458.8:c.630+91G>C MANE Select NP_005449.5:n.630+91G>C
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