Canonical Allele Identifier: CA374868377

Gene: CRB2

Linked Data

• gnomAD v4: 9-123373805-G-T
• MyVariant Identifiers: chr9:g.126136084G>T (hg19) ; chr9:g.123373805G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123373805G>T , CM000671.2:g.123373805G>T	GRCh38
NC_000009.11:g.126136084G>T , CM000671.1:g.126136084G>T	GRCh37
NC_000009.10:g.125175905G>T	NCBI36
NG_051311.1:g.24741G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3274G>T MANE Select	ENSP00000362734.3:p.Glu1092Ter
ENST00000359999.7:c.3274G>T	ENSP00000353092.3:p.Glu1092Ter
ENST00000373631.7:c.3274G>T	ENSP00000362734.3:p.Glu1092Ter
ENST00000460253.1:c.2278G>T	ENSP00000435279.1:p.Glu760Ter
NM_173689.6:c.3274G>T	NP_775960.4:p.Glu1092Ter
NR_104603.1:n.2388G>T
XM_005251934.1:c.2278G>T	XP_005251991.1:p.Glu760Ter
XM_011518556.1:c.3247G>T	XP_011516858.1:p.Glu1083Ter
XM_011518557.1:c.3079G>T	XP_011516859.1:p.Glu1027Ter
XM_011518558.1:c.3079G>T	XP_011516860.1:p.Glu1027Ter
XM_005251934.3:c.2278G>T	XP_005251991.1:p.Glu760Ter
XM_011518556.3:c.3247G>T	XP_011516858.1:p.Glu1083Ter
XM_011518557.3:c.3079G>T	XP_011516859.1:p.Glu1027Ter
XM_011518558.3:c.3079G>T	XP_011516860.1:p.Glu1027Ter
NM_173689.7:c.3274G>T MANE Select	NP_775960.4:p.Glu1092Ter
NR_104603.2:n.2388G>T