Canonical Allele Identifier: CA374869731

Gene: CRB2

Linked Data

• MyVariant Identifiers: chr9:g.126139231A>C (hg19) ; chr9:g.123376952A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376952A>C , CM000671.2:g.123376952A>C	GRCh38
NC_000009.11:g.126139231A>C , CM000671.1:g.126139231A>C	GRCh37
NC_000009.10:g.125179052A>C	NCBI36
NG_051311.1:g.27888A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3748A>C MANE Select	ENSP00000362734.3:p.Lys1250Gln
ENST00000373631.7:c.3748A>C	ENSP00000362734.3:p.Lys1250Gln
ENST00000460253.1:c.2752A>C	ENSP00000435279.1:p.Lys918Gln
NM_173689.6:c.3748A>C	NP_775960.4:p.Lys1250Gln
NR_104603.1:n.2862A>C
XM_005251934.1:c.2752A>C	XP_005251991.1:p.Lys918Gln
XM_011518556.1:c.3721A>C	XP_011516858.1:p.Lys1241Gln
XM_011518557.1:c.3553A>C	XP_011516859.1:p.Lys1185Gln
XM_011518558.1:c.3553A>C	XP_011516860.1:p.Lys1185Gln
XM_005251934.3:c.2752A>C	XP_005251991.1:p.Lys918Gln
XM_011518556.3:c.3721A>C	XP_011516858.1:p.Lys1241Gln
XM_011518557.3:c.3553A>C	XP_011516859.1:p.Lys1185Gln
XM_011518558.3:c.3553A>C	XP_011516860.1:p.Lys1185Gln
NM_173689.7:c.3748A>C MANE Select	NP_775960.4:p.Lys1250Gln
NR_104603.2:n.2862A>C