Canonical Allele Identifier: CA416779657
Gene: CRYBG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.26650655C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26324164C>G , CM000663.2:g.26324164C>G GRCh38
NC_000001.10:g.26650655C>G , CM000663.1:g.26650655C>G GRCh37
NC_000001.9:g.26523242C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000308182.10:c.4725G>C MANE Select ENSP00000310435.6:p.Leu1575=
ENST00000475866.3:c.5697G>C ENSP00000428746.2:p.Leu1899=
ENST00000308182.9:c.4725G>C ENSP00000310435.6:p.Leu1575=
ENST00000374208.1:n.203G>C
ENST00000374211.5:n.339G>C
ENST00000527815.5:c.2103G>C ENSP00000433931.1:p.Leu701=
NM_001039775.3:c.4725G>C NP_001034864.2:p.Leu1575=
XM_005245918.2:c.4725G>C XP_005245975.1:p.Leu1575=
XM_011541672.1:c.4689G>C XP_011539974.1:p.Leu1563=
XM_011541673.1:c.4896G>C XP_011539975.1:p.Leu1632=
XR_946681.1:n.5189G>C
XM_011541673.2:c.4896G>C XP_011539975.1:p.Leu1632=
XR_001737260.1:n.4748G>C
NM_001039775.4:c.4725G>C MANE Select NP_001034864.2:p.Leu1575=