Canonical Allele Identifier: CA13072122

Gene: GABBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.98341309G>A , CM000671.2:g.98341309G>A	GRCh38
NC_000009.11:g.101103591G>A , CM000671.1:g.101103591G>A	GRCh37
NC_000009.10:g.100143412G>A	NCBI36
NG_016426.1:g.372889C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005458.8:c.1893+21406C>T MANE Select	NP_005449.5:n.1893+21406C>T
ENST00000259455.4:c.1893+21406C>T MANE Select	ENSP00000259455.2:n.1893+21406C>T
NM_005458.7:c.1893+21406C>T	NP_005449.5:n.1893+21406C>T
ENST00000259455.3:c.1893+21406C>T	ENSP00000259455.2:n.1893+21406C>T
ENST00000634457.1:c.231+21406C>T	ENSP00000489352.1:n.231+21406C>T
ENST00000635462.1:n.388+21406C>T
ENST00000637410.1:n.1671+21406C>T
XM_005252316.3:c.1119+21406C>T	XP_005252373.1:n.1119+21406C>T
XM_005252316.5:c.1119+21406C>T	XP_005252373.1:n.1119+21406C>T
XM_017015331.2:c.1599+21406C>T	XP_016870820.1:n.1599+21406C>T
XM_017015332.2:c.1119+21406C>T	XP_016870821.1:n.1119+21406C>T