Canonical Allele Identifier: CA2544946100

Gene: GABBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98442666C>T , CM000671.2:g.98442666C>T	GRCh38
NC_000009.11:g.101204948C>T , CM000671.1:g.101204948C>T	GRCh37
NC_000009.10:g.100244769C>T	NCBI36
NG_016426.1:g.271532G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259455.4:c.1236+11315G>A MANE Select	ENSP00000259455.2:n.1236+11315G>A
ENST00000637410.1:n.1014+11315G>A
ENST00000259455.3:c.1236+11315G>A	ENSP00000259455.2:n.1236+11315G>A
NM_005458.7:c.1236+11315G>A	NP_005449.5:n.1236+11315G>A
XM_005252316.3:c.462+11315G>A	XP_005252373.1:n.462+11315G>A
XM_005252316.5:c.462+11315G>A	XP_005252373.1:n.462+11315G>A
XM_017015331.2:c.942+11315G>A	XP_016870820.1:n.942+11315G>A
XM_017015332.2:c.462+11315G>A	XP_016870821.1:n.462+11315G>A
NM_005458.8:c.1236+11315G>A MANE Select	NP_005449.5:n.1236+11315G>A