Canonical Allele Identifier: CA2644265454

Gene: CRYBG2

Linked Data

• gnomAD v4: 1-26324050-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26324050T>C , CM000663.2:g.26324050T>C	GRCh38
NC_000001.10:g.26650541T>C , CM000663.1:g.26650541T>C	GRCh37
NC_000001.9:g.26523128T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308182.10:c.4737+102A>G MANE Select	ENSP00000310435.6:n.4737+102A>G
ENST00000475866.3:c.5709+102A>G	ENSP00000428746.2:n.5709+102A>G
ENST00000308182.9:c.4737+102A>G	ENSP00000310435.6:n.4737+102A>G
ENST00000374208.1:n.215+102A>G
ENST00000374211.5:n.351+102A>G
ENST00000527815.5:c.2115+102A>G	ENSP00000433931.1:n.2115+102A>G
NM_001039775.3:c.4737+102A>G	NP_001034864.2:n.4737+102A>G
XM_005245918.2:c.4737+102A>G	XP_005245975.1:n.4737+102A>G
XM_011541672.1:c.4701+102A>G	XP_011539974.1:n.4701+102A>G
XM_011541673.1:c.4908+102A>G	XP_011539975.1:n.4908+102A>G
XR_946681.1:n.5201+102A>G
XM_011541673.2:c.4908+102A>G	XP_011539975.1:n.4908+102A>G
XR_001737260.1:n.4760+102A>G
NM_001039775.4:c.4737+102A>G MANE Select	NP_001034864.2:n.4737+102A>G