Canonical Allele Identifier: CA339136416

Gene: CRYBG2

Linked Data

• dbSNP Id: rs2073893115
• MyVariant Identifiers: chr1:g.26650659C>T (hg19) ; chr1:g.26324168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26324168C>T , CM000663.2:g.26324168C>T	GRCh38
NC_000001.10:g.26650659C>T , CM000663.1:g.26650659C>T	GRCh37
NC_000001.9:g.26523246C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308182.10:c.4721G>A MANE Select	ENSP00000310435.6:p.Gly1574Glu
ENST00000475866.3:c.5693G>A	ENSP00000428746.2:p.Gly1898Glu
ENST00000308182.9:c.4721G>A	ENSP00000310435.6:p.Gly1574Glu
ENST00000374208.1:n.199G>A
ENST00000374211.5:n.335G>A
ENST00000527815.5:c.2099G>A	ENSP00000433931.1:p.Gly700Glu
NM_001039775.3:c.4721G>A	NP_001034864.2:p.Gly1574Glu
XM_005245918.2:c.4721G>A	XP_005245975.1:p.Gly1574Glu
XM_011541672.1:c.4685G>A	XP_011539974.1:p.Gly1562Glu
XM_011541673.1:c.4892G>A	XP_011539975.1:p.Gly1631Glu
XR_946681.1:n.5185G>A
XM_011541673.2:c.4892G>A	XP_011539975.1:p.Gly1631Glu
XR_001737260.1:n.4744G>A
NM_001039775.4:c.4721G>A MANE Select	NP_001034864.2:p.Gly1574Glu