Canonical Allele Identifier: CA13072123

Gene: GABBR2

Linked Data

• dbSNP Id: rs1435251
• gnomAD v2: 9-101103664-A-C
• gnomAD v3: 9-98341382-A-C
• gnomAD v4: 9-98341382-A-C
• MyVariant Identifiers: chr9:g.101103664A>C (hg19) ; chr9:g.98341382A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98341382A>C , CM000671.2:g.98341382A>C	GRCh38
NC_000009.11:g.101103664A>C , CM000671.1:g.101103664A>C	GRCh37
NC_000009.10:g.100143485A>C	NCBI36
NG_016426.1:g.372816T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000259455.4:c.1893+21333T>G MANE Select	ENSP00000259455.2:n.1893+21333T>G
ENST00000637410.1:n.1671+21333T>G
ENST00000259455.3:c.1893+21333T>G	ENSP00000259455.2:n.1893+21333T>G
ENST00000634457.1:c.231+21333T>G	ENSP00000489352.1:n.231+21333T>G
ENST00000635462.1:n.388+21333T>G
NM_005458.7:c.1893+21333T>G	NP_005449.5:n.1893+21333T>G
XM_005252316.3:c.1119+21333T>G	XP_005252373.1:n.1119+21333T>G
XM_005252316.5:c.1119+21333T>G	XP_005252373.1:n.1119+21333T>G
XM_017015331.2:c.1599+21333T>G	XP_016870820.1:n.1599+21333T>G
XM_017015332.2:c.1119+21333T>G	XP_016870821.1:n.1119+21333T>G
NM_005458.8:c.1893+21333T>G MANE Select	NP_005449.5:n.1893+21333T>G