Canonical Allele Identifier: CA374869737

Gene: CRB2

Linked Data

• MyVariant Identifiers: chr9:g.126139233G>T (hg19) ; chr9:g.123376954G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376954G>T , CM000671.2:g.123376954G>T	GRCh38
NC_000009.11:g.126139233G>T , CM000671.1:g.126139233G>T	GRCh37
NC_000009.10:g.125179054G>T	NCBI36
NG_051311.1:g.27890G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3750G>T MANE Select	ENSP00000362734.3:p.Lys1250Asn
ENST00000373631.7:c.3750G>T	ENSP00000362734.3:p.Lys1250Asn
ENST00000460253.1:c.2754G>T	ENSP00000435279.1:p.Lys918Asn
NM_173689.6:c.3750G>T	NP_775960.4:p.Lys1250Asn
NR_104603.1:n.2864G>T
XM_005251934.1:c.2754G>T	XP_005251991.1:p.Lys918Asn
XM_011518556.1:c.3723G>T	XP_011516858.1:p.Lys1241Asn
XM_011518557.1:c.3555G>T	XP_011516859.1:p.Lys1185Asn
XM_011518558.1:c.3555G>T	XP_011516860.1:p.Lys1185Asn
XM_005251934.3:c.2754G>T	XP_005251991.1:p.Lys918Asn
XM_011518556.3:c.3723G>T	XP_011516858.1:p.Lys1241Asn
XM_011518557.3:c.3555G>T	XP_011516859.1:p.Lys1185Asn
XM_011518558.3:c.3555G>T	XP_011516860.1:p.Lys1185Asn
NM_173689.7:c.3750G>T MANE Select	NP_775960.4:p.Lys1250Asn
NR_104603.2:n.2864G>T