Canonical Allele Identifier: CA2580887292
Gene: GABBR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98442880C>G , CM000671.2:g.98442880C>G GRCh38
NC_000009.11:g.101205162C>G , CM000671.1:g.101205162C>G GRCh37
NC_000009.10:g.100244983C>G NCBI36
NG_016426.1:g.271318G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.1236+11101G>C MANE Select ENSP00000259455.2:n.1236+11101G>C
ENST00000637410.1:n.1014+11101G>C
ENST00000259455.3:c.1236+11101G>C ENSP00000259455.2:n.1236+11101G>C
NM_005458.7:c.1236+11101G>C NP_005449.5:n.1236+11101G>C
XM_005252316.3:c.462+11101G>C XP_005252373.1:n.462+11101G>C
XM_005252316.5:c.462+11101G>C XP_005252373.1:n.462+11101G>C
XM_017015331.2:c.942+11101G>C XP_016870820.1:n.942+11101G>C
XM_017015332.2:c.462+11101G>C XP_016870821.1:n.462+11101G>C
NM_005458.8:c.1236+11101G>C MANE Select NP_005449.5:n.1236+11101G>C
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