Canonical Allele Identifier: CA374869913
Gene: CRB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.123377036G>T , CM000671.2:g.123377036G>T GRCh38
NC_000009.11:g.126139315G>T , CM000671.1:g.126139315G>T GRCh37
NC_000009.10:g.125179136G>T NCBI36
NG_051311.1:g.27972G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373631.8:c.3832G>T MANE Select ENSP00000362734.3:p.Val1278Leu
ENST00000373631.7:c.3832G>T ENSP00000362734.3:p.Val1278Leu
ENST00000460253.1:c.2836G>T ENSP00000435279.1:p.Val946Leu
NM_173689.6:c.3832G>T NP_775960.4:p.Val1278Leu
NR_104603.1:n.2946G>T
XM_005251934.1:c.2836G>T XP_005251991.1:p.Val946Leu
XM_011518556.1:c.3805G>T XP_011516858.1:p.Val1269Leu
XM_011518557.1:c.3637G>T XP_011516859.1:p.Val1213Leu
XM_011518558.1:c.3637G>T XP_011516860.1:p.Val1213Leu
XM_005251934.3:c.2836G>T XP_005251991.1:p.Val946Leu
XM_011518556.3:c.3805G>T XP_011516858.1:p.Val1269Leu
XM_011518557.3:c.3637G>T XP_011516859.1:p.Val1213Leu
XM_011518558.3:c.3637G>T XP_011516860.1:p.Val1213Leu
NM_173689.7:c.3832G>T MANE Select NP_775960.4:p.Val1278Leu
NR_104603.2:n.2946G>T