Canonical Allele Identifier: CA5231590

Gene: CRB2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123363039C>A , CM000671.2:g.123363039C>A	GRCh38
NC_000009.11:g.126125318C>A , CM000671.1:g.126125318C>A	GRCh37
NC_000009.10:g.125165139C>A	NCBI36
NG_051311.1:g.13975C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.269C>A MANE Select	ENSP00000362734.3:p.Thr90Asn
ENST00000359999.7:c.269C>A	ENSP00000353092.3:p.Thr90Asn
ENST00000373631.7:c.269C>A	ENSP00000362734.3:p.Thr90Asn
NM_173689.6:c.269C>A	NP_775960.4:p.Thr90Asn
XM_011518556.1:c.269C>A	XP_011516858.1:p.Thr90Asn
XM_011518557.1:c.74C>A	XP_011516859.1:p.Thr25Asn
XM_011518558.1:c.74C>A	XP_011516860.1:p.Thr25Asn
XM_011518556.3:c.269C>A	XP_011516858.1:p.Thr90Asn
XM_011518557.3:c.74C>A	XP_011516859.1:p.Thr25Asn
XM_011518558.3:c.74C>A	XP_011516860.1:p.Thr25Asn
NM_173689.7:c.269C>A MANE Select	NP_775960.4:p.Thr90Asn