Canonical Allele Identifier: CA2644265560

Gene: CRYBG2

Linked Data

• gnomAD v4: 1-26324070-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26324070C>A , CM000663.2:g.26324070C>A	GRCh38
NC_000001.10:g.26650561C>A , CM000663.1:g.26650561C>A	GRCh37
NC_000001.9:g.26523148C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000308182.10:c.4737+82G>T MANE Select	ENSP00000310435.6:n.4737+82G>T
ENST00000475866.3:c.5709+82G>T	ENSP00000428746.2:n.5709+82G>T
ENST00000308182.9:c.4737+82G>T	ENSP00000310435.6:n.4737+82G>T
ENST00000374208.1:n.215+82G>T
ENST00000374211.5:n.351+82G>T
ENST00000527815.5:c.2115+82G>T	ENSP00000433931.1:n.2115+82G>T
NM_001039775.3:c.4737+82G>T	NP_001034864.2:n.4737+82G>T
XM_005245918.2:c.4737+82G>T	XP_005245975.1:n.4737+82G>T
XM_011541672.1:c.4701+82G>T	XP_011539974.1:n.4701+82G>T
XM_011541673.1:c.4908+82G>T	XP_011539975.1:n.4908+82G>T
XR_946681.1:n.5201+82G>T
XM_011541673.2:c.4908+82G>T	XP_011539975.1:n.4908+82G>T
XR_001737260.1:n.4760+82G>T
NM_001039775.4:c.4737+82G>T MANE Select	NP_001034864.2:n.4737+82G>T