Canonical Allele Identifier: CA2952564230
Gene: GABBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98380458G>A , CM000671.2:g.98380458G>A GRCh38
NC_000009.11:g.101142740G>A , CM000671.1:g.101142740G>A GRCh37
NC_000009.10:g.100182561G>A NCBI36
NG_016426.1:g.333740C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.1662+5182C>T MANE Select ENSP00000259455.2:n.1662+5182C>T
ENST00000637410.1:n.1440+5182C>T
ENST00000259455.3:c.1662+5182C>T ENSP00000259455.2:n.1662+5182C>T
ENST00000634314.1:n.167+5182C>T
NM_005458.7:c.1662+5182C>T NP_005449.5:n.1662+5182C>T
XM_005252316.3:c.888+5182C>T XP_005252373.1:n.888+5182C>T
XM_005252316.5:c.888+5182C>T XP_005252373.1:n.888+5182C>T
XM_017015331.2:c.1368+5182C>T XP_016870820.1:n.1368+5182C>T
XM_017015332.2:c.888+5182C>T XP_016870821.1:n.888+5182C>T
NM_005458.8:c.1662+5182C>T MANE Select NP_005449.5:n.1662+5182C>T