Canonical Allele Identifier: CA416779663
Gene: CRYBG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.26650658C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26324167C>A , CM000663.2:g.26324167C>A GRCh38
NC_000001.10:g.26650658C>A , CM000663.1:g.26650658C>A GRCh37
NC_000001.9:g.26523245C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000308182.10:c.4722G>T MANE Select ENSP00000310435.6:p.Gly1574=
ENST00000475866.3:c.5694G>T ENSP00000428746.2:p.Gly1898=
ENST00000308182.9:c.4722G>T ENSP00000310435.6:p.Gly1574=
ENST00000374208.1:n.200G>T
ENST00000374211.5:n.336G>T
ENST00000527815.5:c.2100G>T ENSP00000433931.1:p.Gly700=
NM_001039775.3:c.4722G>T NP_001034864.2:p.Gly1574=
XM_005245918.2:c.4722G>T XP_005245975.1:p.Gly1574=
XM_011541672.1:c.4686G>T XP_011539974.1:p.Gly1562=
XM_011541673.1:c.4893G>T XP_011539975.1:p.Gly1631=
XR_946681.1:n.5186G>T
XM_011541673.2:c.4893G>T XP_011539975.1:p.Gly1631=
XR_001737260.1:n.4745G>T
NM_001039775.4:c.4722G>T MANE Select NP_001034864.2:p.Gly1574=