Canonical Allele Identifier: CA374869927

Gene: CRB2

Linked Data

• dbSNP Id: rs1284436486
• gnomAD v2: 9-126139321-C-T
• gnomAD v4: 9-123377042-C-T
• COSMIC: COSM1459935
• MyVariant Identifiers: chr9:g.126139321C>T (hg19) ; chr9:g.123377042C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377042C>T , CM000671.2:g.123377042C>T	GRCh38
NC_000009.11:g.126139321C>T , CM000671.1:g.126139321C>T	GRCh37
NC_000009.10:g.125179142C>T	NCBI36
NG_051311.1:g.27978C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3838C>T MANE Select	ENSP00000362734.3:p.Pro1280Ser
ENST00000373631.7:c.3838C>T	ENSP00000362734.3:p.Pro1280Ser
ENST00000460253.1:c.2842C>T	ENSP00000435279.1:p.Pro948Ser
NM_173689.6:c.3838C>T	NP_775960.4:p.Pro1280Ser
NR_104603.1:n.2952C>T
XM_005251934.1:c.2842C>T	XP_005251991.1:p.Pro948Ser
XM_011518556.1:c.3811C>T	XP_011516858.1:p.Pro1271Ser
XM_011518557.1:c.3643C>T	XP_011516859.1:p.Pro1215Ser
XM_011518558.1:c.3643C>T	XP_011516860.1:p.Pro1215Ser
XM_005251934.3:c.2842C>T	XP_005251991.1:p.Pro948Ser
XM_011518556.3:c.3811C>T	XP_011516858.1:p.Pro1271Ser
XM_011518557.3:c.3643C>T	XP_011516859.1:p.Pro1215Ser
XM_011518558.3:c.3643C>T	XP_011516860.1:p.Pro1215Ser
NM_173689.7:c.3838C>T MANE Select	NP_775960.4:p.Pro1280Ser
NR_104603.2:n.2952C>T