Canonical Allele Identifier: CA589537385

Gene: GABBR2

Linked Data

• dbSNP Id: rs1336307562
• gnomAD v2: 9-101205032-G-A
• gnomAD v3: 9-98442750-G-A
• gnomAD v4: 9-98442750-G-A
• MyVariant Identifiers: chr9:g.101205032G>A (hg19) ; chr9:g.98442750G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98442750G>A , CM000671.2:g.98442750G>A	GRCh38
NC_000009.11:g.101205032G>A , CM000671.1:g.101205032G>A	GRCh37
NC_000009.10:g.100244853G>A	NCBI36
NG_016426.1:g.271448C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000259455.4:c.1236+11231C>T MANE Select	ENSP00000259455.2:n.1236+11231C>T
ENST00000637410.1:n.1014+11231C>T
ENST00000259455.3:c.1236+11231C>T	ENSP00000259455.2:n.1236+11231C>T
NM_005458.7:c.1236+11231C>T	NP_005449.5:n.1236+11231C>T
XM_005252316.3:c.462+11231C>T	XP_005252373.1:n.462+11231C>T
XM_005252316.5:c.462+11231C>T	XP_005252373.1:n.462+11231C>T
XM_017015331.2:c.942+11231C>T	XP_016870820.1:n.942+11231C>T
XM_017015332.2:c.462+11231C>T	XP_016870821.1:n.462+11231C>T
NM_005458.8:c.1236+11231C>T MANE Select	NP_005449.5:n.1236+11231C>T