Canonical Allele Identifier: CA374869879

Gene: CRB2

Linked Data

• gnomAD v4: 9-123377020-G-C
• MyVariant Identifiers: chr9:g.126139299G>C (hg19) ; chr9:g.123377020G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377020G>C , CM000671.2:g.123377020G>C	GRCh38
NC_000009.11:g.126139299G>C , CM000671.1:g.126139299G>C	GRCh37
NC_000009.10:g.125179120G>C	NCBI36
NG_051311.1:g.27956G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3816G>C MANE Select	ENSP00000362734.3:p.Met1272Ile
ENST00000373631.7:c.3816G>C	ENSP00000362734.3:p.Met1272Ile
ENST00000460253.1:c.2820G>C	ENSP00000435279.1:p.Met940Ile
NM_173689.6:c.3816G>C	NP_775960.4:p.Met1272Ile
NR_104603.1:n.2930G>C
XM_005251934.1:c.2820G>C	XP_005251991.1:p.Met940Ile
XM_011518556.1:c.3789G>C	XP_011516858.1:p.Met1263Ile
XM_011518557.1:c.3621G>C	XP_011516859.1:p.Met1207Ile
XM_011518558.1:c.3621G>C	XP_011516860.1:p.Met1207Ile
XM_005251934.3:c.2820G>C	XP_005251991.1:p.Met940Ile
XM_011518556.3:c.3789G>C	XP_011516858.1:p.Met1263Ile
XM_011518557.3:c.3621G>C	XP_011516859.1:p.Met1207Ile
XM_011518558.3:c.3621G>C	XP_011516860.1:p.Met1207Ile
NM_173689.7:c.3816G>C MANE Select	NP_775960.4:p.Met1272Ile
NR_104603.2:n.2930G>C