Canonical Allele Identifier: CA5232321

Gene: CRB2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123373436A>G , CM000671.2:g.123373436A>G	GRCh38
NC_000009.11:g.126135715A>G , CM000671.1:g.126135715A>G	GRCh37
NC_000009.10:g.125175536A>G	NCBI36
NG_051311.1:g.24372A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.2905A>G MANE Select	ENSP00000362734.3:p.Thr969Ala
ENST00000359999.7:c.2905A>G	ENSP00000353092.3:p.Thr969Ala
ENST00000373631.7:c.2905A>G	ENSP00000362734.3:p.Thr969Ala
ENST00000460253.1:c.1909A>G	ENSP00000435279.1:p.Thr637Ala
NM_173689.6:c.2905A>G	NP_775960.4:p.Thr969Ala
NR_104603.1:n.2019A>G
XM_005251934.1:c.1909A>G	XP_005251991.1:p.Thr637Ala
XM_011518556.1:c.2878A>G	XP_011516858.1:p.Thr960Ala
XM_011518557.1:c.2710A>G	XP_011516859.1:p.Thr904Ala
XM_011518558.1:c.2710A>G	XP_011516860.1:p.Thr904Ala
XM_005251934.3:c.1909A>G	XP_005251991.1:p.Thr637Ala
XM_011518556.3:c.2878A>G	XP_011516858.1:p.Thr960Ala
XM_011518557.3:c.2710A>G	XP_011516859.1:p.Thr904Ala
XM_011518558.3:c.2710A>G	XP_011516860.1:p.Thr904Ala
NM_173689.7:c.2905A>G MANE Select	NP_775960.4:p.Thr969Ala
NR_104603.2:n.2019A>G