Canonical Allele Identifier: CA1127215290

Gene: GABBR2

Linked Data

• dbSNP Id: rs1828305896
• gnomAD v3: 9-98541607-TGAGGGAATA-T
• gnomAD v4: 9-98541607-TGAGGGAATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98541608_98541616del , CM000671.2:g.98541608_98541616del	GRCh38
NC_000009.11:g.101303890_101303898del , CM000671.1:g.101303890_101303898del	GRCh37
NC_000009.10:g.100343711_100343719del	NCBI36
NG_016426.1:g.172582_172590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.630+257_630+265del MANE Select	ENSP00000259455.2:n.630+257_630+265del
ENST00000637410.1:n.408+257_408+265del
ENST00000259455.3:c.630+257_630+265del	ENSP00000259455.2:n.630+257_630+265del
ENST00000477471.1:n.417+257_417+265del
ENST00000634227.1:n.404+257_404+265del
NM_005458.7:c.630+257_630+265del	NP_005449.5:n.630+257_630+265del
XM_017015331.2:c.336+257_336+265del	XP_016870820.1:n.336+257_336+265del
NM_005458.8:c.630+257_630+265del MANE Select	NP_005449.5:n.630+257_630+265del