Canonical Allele Identifier: CA1148901342
Gene: CRYBG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26324173C= , CM000663.2:g.26324173C= GRCh38
NC_000001.10:g.26650664C= , CM000663.1:g.26650664C= GRCh37
NC_000001.9:g.26523251C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000308182.10:c.4716G= MANE Select ENSP00000310435.6:p.Glu1572=
ENST00000475866.3:c.5688G= ENSP00000428746.2:p.Glu1896=
ENST00000308182.9:c.4716G= ENSP00000310435.6:p.Glu1572=
ENST00000374208.1:n.194G=
ENST00000374211.5:n.330G=
ENST00000527815.5:c.2094G= ENSP00000433931.1:p.Glu698=
NM_001039775.3:c.4716G= NP_001034864.2:p.Glu1572=
XM_005245918.2:c.4716G= XP_005245975.1:p.Glu1572=
XM_011541672.1:c.4680G= XP_011539974.1:p.Glu1560=
XM_011541673.1:c.4887G= XP_011539975.1:p.Glu1629=
XR_946681.1:n.5180G=
XM_011541673.2:c.4887G= XP_011539975.1:p.Glu1629=
XR_001737260.1:n.4739G=
NM_001039775.4:c.4716G= MANE Select NP_001034864.2:p.Glu1572=