Canonical Allele Identifier: CA339136443

Gene: CRYBG2

Linked Data

• MyVariant Identifiers: chr1:g.26650666C>A (hg19) ; chr1:g.26324175C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26324175C>A , CM000663.2:g.26324175C>A	GRCh38
NC_000001.10:g.26650666C>A , CM000663.1:g.26650666C>A	GRCh37
NC_000001.9:g.26523253C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308182.10:c.4714G>T MANE Select	ENSP00000310435.6:p.Glu1572Ter
ENST00000475866.3:c.5686G>T	ENSP00000428746.2:p.Glu1896Ter
ENST00000308182.9:c.4714G>T	ENSP00000310435.6:p.Glu1572Ter
ENST00000374208.1:n.192G>T
ENST00000374211.5:n.328G>T
ENST00000527815.5:c.2092G>T	ENSP00000433931.1:p.Glu698Ter
NM_001039775.3:c.4714G>T	NP_001034864.2:p.Glu1572Ter
XM_005245918.2:c.4714G>T	XP_005245975.1:p.Glu1572Ter
XM_011541672.1:c.4678G>T	XP_011539974.1:p.Glu1560Ter
XM_011541673.1:c.4885G>T	XP_011539975.1:p.Glu1629Ter
XR_946681.1:n.5178G>T
XM_011541673.2:c.4885G>T	XP_011539975.1:p.Glu1629Ter
XR_001737260.1:n.4737G>T
NM_001039775.4:c.4714G>T MANE Select	NP_001034864.2:p.Glu1572Ter