Canonical Allele Identifier: CA374350825
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541871A>G , CM000671.2:g.98541871A>G GRCh38
NC_000009.11:g.101304153A>G , CM000671.1:g.101304153A>G GRCh37
NC_000009.10:g.100343974A>G NCBI36
NG_016426.1:g.172327T>C

Transcript Alleles

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