Canonical Allele Identifier: CA2842969750

Gene: CRB2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376919dup , CM000671.2:g.123376919dup	GRCh38
NC_000009.11:g.126139198dup , CM000671.1:g.126139198dup	GRCh37
NC_000009.10:g.125179019dup	NCBI36
NG_051311.1:g.27855dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3715dup MANE Select	ENSP00000362734.3:p.Leu1239ProfsTer17
ENST00000373631.7:c.3715dup	ENSP00000362734.3:p.Leu1239ProfsTer17
ENST00000460253.1:c.2719dup	ENSP00000435279.1:p.Leu907ProfsTer17
NM_173689.6:c.3715dup	NP_775960.4:p.Leu1239ProfsTer17
NR_104603.1:n.2829dup
XM_005251934.1:c.2719dup	XP_005251991.1:p.Leu907ProfsTer17
XM_011518556.1:c.3688dup	XP_011516858.1:p.Leu1230ProfsTer17
XM_011518557.1:c.3520dup	XP_011516859.1:p.Leu1174ProfsTer17
XM_011518558.1:c.3520dup	XP_011516860.1:p.Leu1174ProfsTer17
XM_005251934.3:c.2719dup	XP_005251991.1:p.Leu907ProfsTer17
XM_011518556.3:c.3688dup	XP_011516858.1:p.Leu1230ProfsTer17
XM_011518557.3:c.3520dup	XP_011516859.1:p.Leu1174ProfsTer17
XM_011518558.3:c.3520dup	XP_011516860.1:p.Leu1174ProfsTer17
NM_173689.7:c.3715dup MANE Select	NP_775960.4:p.Leu1239ProfsTer17
NR_104603.2:n.2829dup