Canonical Allele Identifier: CA703401

Gene: CRYBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26322014G>A , CM000663.2:g.26322014G>A	GRCh38
NC_000001.10:g.26648505G>A , CM000663.1:g.26648505G>A	GRCh37
NC_000001.9:g.26521092G>A	NCBI36
NG_028986.1:g.1252C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001039775.4:c.4940C>T MANE Select	NP_001034864.2:p.Pro1647Leu
ENST00000308182.10:c.4940C>T MANE Select	ENSP00000310435.6:p.Pro1647Leu
NM_001039775.3:c.4940C>T	NP_001034864.2:p.Pro1647Leu
ENST00000308182.9:c.4940C>T	ENSP00000310435.6:p.Pro1647Leu
ENST00000374208.1:n.418C>T
ENST00000374211.5:n.554C>T
ENST00000475866.3:c.5912C>T	ENSP00000428746.2:p.Pro1971Leu
ENST00000527815.5:c.2318C>T	ENSP00000433931.1:p.Pro773Leu
XM_005245918.2:c.4940C>T	XP_005245975.1:p.Pro1647Leu
XM_011541672.1:c.4904C>T	XP_011539974.1:p.Pro1635Leu
XM_011541673.1:c.5111C>T	XP_011539975.1:p.Pro1704Leu
XM_011541673.2:c.5111C>T	XP_011539975.1:p.Pro1704Leu
XR_001737260.1:n.4963C>T
XR_946681.1:n.5404C>T