Canonical Allele Identifier: CA2838366145
Gene: CRYBG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26324090C>T , CM000663.2:g.26324090C>T GRCh38
NC_000001.10:g.26650581C>T , CM000663.1:g.26650581C>T GRCh37
NC_000001.9:g.26523168C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000308182.10:c.4737+62G>A MANE Select ENSP00000310435.6:n.4737+62G>A
ENST00000475866.3:c.5709+62G>A ENSP00000428746.2:n.5709+62G>A
ENST00000308182.9:c.4737+62G>A ENSP00000310435.6:n.4737+62G>A
ENST00000374208.1:n.215+62G>A
ENST00000374211.5:n.351+62G>A
ENST00000527815.5:c.2115+62G>A ENSP00000433931.1:n.2115+62G>A
NM_001039775.3:c.4737+62G>A NP_001034864.2:n.4737+62G>A
XM_005245918.2:c.4737+62G>A XP_005245975.1:n.4737+62G>A
XM_011541672.1:c.4701+62G>A XP_011539974.1:n.4701+62G>A
XM_011541673.1:c.4908+62G>A XP_011539975.1:n.4908+62G>A
XR_946681.1:n.5201+62G>A
XM_011541673.2:c.4908+62G>A XP_011539975.1:n.4908+62G>A
XR_001737260.1:n.4760+62G>A
NM_001039775.4:c.4737+62G>A MANE Select NP_001034864.2:n.4737+62G>A