Canonical Allele Identifier: CA374869576

Gene: CRB2

Linked Data

• gnomAD v4: 9-123376868-C-A
• MyVariant Identifiers: chr9:g.126139147C>A (hg19) ; chr9:g.123376868C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376868C>A , CM000671.2:g.123376868C>A	GRCh38
NC_000009.11:g.126139147C>A , CM000671.1:g.126139147C>A	GRCh37
NC_000009.10:g.125178968C>A	NCBI36
NG_051311.1:g.27804C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3664C>A MANE Select	ENSP00000362734.3:p.Leu1222Met
ENST00000373631.7:c.3664C>A	ENSP00000362734.3:p.Leu1222Met
ENST00000460253.1:c.2668C>A	ENSP00000435279.1:p.Leu890Met
NM_173689.6:c.3664C>A	NP_775960.4:p.Leu1222Met
NR_104603.1:n.2778C>A
XM_005251934.1:c.2668C>A	XP_005251991.1:p.Leu890Met
XM_011518556.1:c.3637C>A	XP_011516858.1:p.Leu1213Met
XM_011518557.1:c.3469C>A	XP_011516859.1:p.Leu1157Met
XM_011518558.1:c.3469C>A	XP_011516860.1:p.Leu1157Met
XM_005251934.3:c.2668C>A	XP_005251991.1:p.Leu890Met
XM_011518556.3:c.3637C>A	XP_011516858.1:p.Leu1213Met
XM_011518557.3:c.3469C>A	XP_011516859.1:p.Leu1157Met
XM_011518558.3:c.3469C>A	XP_011516860.1:p.Leu1157Met
NM_173689.7:c.3664C>A MANE Select	NP_775960.4:p.Leu1222Met
NR_104603.2:n.2778C>A