Canonical Allele Identifier: CA2566383495
Gene: GABBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541619C>A , CM000671.2:g.98541619C>A GRCh38
NC_000009.11:g.101303901C>A , CM000671.1:g.101303901C>A GRCh37
NC_000009.10:g.100343722C>A NCBI36
NG_016426.1:g.172579G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.630+254G>T MANE Select ENSP00000259455.2:n.630+254G>T
ENST00000637410.1:n.408+254G>T
ENST00000259455.3:c.630+254G>T ENSP00000259455.2:n.630+254G>T
ENST00000477471.1:n.417+254G>T
ENST00000634227.1:n.404+254G>T
NM_005458.7:c.630+254G>T NP_005449.5:n.630+254G>T
XM_017015331.2:c.336+254G>T XP_016870820.1:n.336+254G>T
NM_005458.8:c.630+254G>T MANE Select NP_005449.5:n.630+254G>T