Canonical Allele Identifier: CA374869522
Gene: CRB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123376839A>C , CM000671.2:g.123376839A>C GRCh38
NC_000009.11:g.126139118A>C , CM000671.1:g.126139118A>C GRCh37
NC_000009.10:g.125178939A>C NCBI36
NG_051311.1:g.27775A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.3635A>C MANE Select ENSP00000362734.3:p.Lys1212Thr
ENST00000373631.7:c.3635A>C ENSP00000362734.3:p.Lys1212Thr
ENST00000460253.1:c.2639A>C ENSP00000435279.1:p.Lys880Thr
NM_173689.6:c.3635A>C NP_775960.4:p.Lys1212Thr
NR_104603.1:n.2749A>C
XM_005251934.1:c.2639A>C XP_005251991.1:p.Lys880Thr
XM_011518556.1:c.3608A>C XP_011516858.1:p.Lys1203Thr
XM_011518557.1:c.3440A>C XP_011516859.1:p.Lys1147Thr
XM_011518558.1:c.3440A>C XP_011516860.1:p.Lys1147Thr
XM_005251934.3:c.2639A>C XP_005251991.1:p.Lys880Thr
XM_011518556.3:c.3608A>C XP_011516858.1:p.Lys1203Thr
XM_011518557.3:c.3440A>C XP_011516859.1:p.Lys1147Thr
XM_011518558.3:c.3440A>C XP_011516860.1:p.Lys1147Thr
NM_173689.7:c.3635A>C MANE Select NP_775960.4:p.Lys1212Thr
NR_104603.2:n.2749A>C