Canonical Allele Identifier: CA13072165

Gene: GABBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98490944T>C , CM000671.2:g.98490944T>C	GRCh38
NC_000009.11:g.101253226T>C , CM000671.1:g.101253226T>C	GRCh37
NC_000009.10:g.100293047T>C	NCBI36
NG_016426.1:g.223254A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005458.8:c.732+5469A>G MANE Select	NP_005449.5:n.732+5469A>G
ENST00000259455.4:c.732+5469A>G MANE Select	ENSP00000259455.2:n.732+5469A>G
NM_005458.7:c.732+5469A>G	NP_005449.5:n.732+5469A>G
ENST00000259455.3:c.732+5469A>G	ENSP00000259455.2:n.732+5469A>G
ENST00000477471.1:n.519+5469A>G
ENST00000634227.1:n.506+5469A>G
ENST00000634919.1:n.510+5022A>G
ENST00000637410.1:n.510+5469A>G
XM_005252316.3:c.-43+5469A>G	XP_005252373.1:n.-43+5469A>G
XM_005252316.5:c.-43+5469A>G	XP_005252373.1:n.-43+5469A>G
XM_017015331.2:c.438+5469A>G	XP_016870820.1:n.438+5469A>G