Canonical Allele Identifier: CA734474721

Gene: CRYBG2

Linked Data

• dbSNP Id: rs1384996372
• gnomAD v4: 1-26324062-T-A
• MyVariant Identifiers: chr1:g.26650553T>A (hg19) ; chr1:g.26324062T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26324062T>A , CM000663.2:g.26324062T>A	GRCh38
NC_000001.10:g.26650553T>A , CM000663.1:g.26650553T>A	GRCh37
NC_000001.9:g.26523140T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000308182.10:c.4737+90A>T MANE Select	ENSP00000310435.6:n.4737+90A>T
ENST00000475866.3:c.5709+90A>T	ENSP00000428746.2:n.5709+90A>T
ENST00000308182.9:c.4737+90A>T	ENSP00000310435.6:n.4737+90A>T
ENST00000374208.1:n.215+90A>T
ENST00000374211.5:n.351+90A>T
ENST00000527815.5:c.2115+90A>T	ENSP00000433931.1:n.2115+90A>T
NM_001039775.3:c.4737+90A>T	NP_001034864.2:n.4737+90A>T
XM_005245918.2:c.4737+90A>T	XP_005245975.1:n.4737+90A>T
XM_011541672.1:c.4701+90A>T	XP_011539974.1:n.4701+90A>T
XM_011541673.1:c.4908+90A>T	XP_011539975.1:n.4908+90A>T
XR_946681.1:n.5201+90A>T
XM_011541673.2:c.4908+90A>T	XP_011539975.1:n.4908+90A>T
XR_001737260.1:n.4760+90A>T
NM_001039775.4:c.4737+90A>T MANE Select	NP_001034864.2:n.4737+90A>T