Canonical Allele Identifier: CA1877934904
Community Standard Title: NM_173689.7(CRB2):c.1897C= (p.Arg633=)
Gene: CRB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123370950C= , CM000671.2:g.123370950C= GRCh38
NC_000009.11:g.126133229C= , CM000671.1:g.126133229C= GRCh37
NC_000009.10:g.125173050C= NCBI36
NG_051311.1:g.21886C=

Transcript Alleles

HGVS Amino-acid Change
NM_173689.7:c.1897C= MANE Select NP_775960.4:p.Arg633=
ENST00000373631.8:c.1897C= MANE Select ENSP00000362734.3:p.Arg633=
NM_173689.6:c.1897C= NP_775960.4:p.Arg633=
NR_104603.1:n.1011C=
NR_104603.2:n.1011C=
ENST00000359999.7:c.1897C= ENSP00000353092.3:p.Arg633=
ENST00000373631.7:c.1897C= ENSP00000362734.3:p.Arg633=
ENST00000460253.1:c.901C= ENSP00000435279.1:p.Arg301=
XM_005251934.1:c.901C= XP_005251991.1:p.Arg301=
XM_005251934.3:c.901C= XP_005251991.1:p.Arg301=
XM_011518556.1:c.1897C= XP_011516858.1:p.Arg633=
XM_011518556.3:c.1897C= XP_011516858.1:p.Arg633=
XM_011518557.1:c.1702C= XP_011516859.1:p.Arg568=
XM_011518557.3:c.1702C= XP_011516859.1:p.Arg568=
XM_011518558.1:c.1702C= XP_011516860.1:p.Arg568=
XM_011518558.3:c.1702C= XP_011516860.1:p.Arg568=