Canonical Allele Identifier: CA869066222

Gene: GABBR2

Linked Data

• dbSNP Id: rs1415113041
• gnomAD v3: 9-98442886-T-C
• gnomAD v4: 9-98442886-T-C
• MyVariant Identifiers: chr9:g.101205168T>C (hg19) ; chr9:g.98442886T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98442886T>C , CM000671.2:g.98442886T>C	GRCh38
NC_000009.11:g.101205168T>C , CM000671.1:g.101205168T>C	GRCh37
NC_000009.10:g.100244989T>C	NCBI36
NG_016426.1:g.271312A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.1236+11095A>G MANE Select	ENSP00000259455.2:n.1236+11095A>G
ENST00000637410.1:n.1014+11095A>G
ENST00000259455.3:c.1236+11095A>G	ENSP00000259455.2:n.1236+11095A>G
NM_005458.7:c.1236+11095A>G	NP_005449.5:n.1236+11095A>G
XM_005252316.3:c.462+11095A>G	XP_005252373.1:n.462+11095A>G
XM_005252316.5:c.462+11095A>G	XP_005252373.1:n.462+11095A>G
XM_017015331.2:c.942+11095A>G	XP_016870820.1:n.942+11095A>G
XM_017015332.2:c.462+11095A>G	XP_016870821.1:n.462+11095A>G
NM_005458.8:c.1236+11095A>G MANE Select	NP_005449.5:n.1236+11095A>G