Canonical Allele Identifier: CA1866959658
Gene: GABBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98380441T>C , CM000671.2:g.98380441T>C GRCh38
NC_000009.11:g.101142723T>C , CM000671.1:g.101142723T>C GRCh37
NC_000009.10:g.100182544T>C NCBI36
NG_016426.1:g.333757A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.1662+5199A>G MANE Select ENSP00000259455.2:n.1662+5199A>G
ENST00000637410.1:n.1440+5199A>G
ENST00000259455.3:c.1662+5199A>G ENSP00000259455.2:n.1662+5199A>G
ENST00000634314.1:n.167+5199A>G
NM_005458.7:c.1662+5199A>G NP_005449.5:n.1662+5199A>G
XM_005252316.3:c.888+5199A>G XP_005252373.1:n.888+5199A>G
XM_005252316.5:c.888+5199A>G XP_005252373.1:n.888+5199A>G
XM_017015331.2:c.1368+5199A>G XP_016870820.1:n.1368+5199A>G
XM_017015332.2:c.888+5199A>G XP_016870821.1:n.888+5199A>G
NM_005458.8:c.1662+5199A>G MANE Select NP_005449.5:n.1662+5199A>G