Canonical Allele Identifier: CA339136410

Gene: CRYBG2

Linked Data

• MyVariant Identifiers: chr1:g.26650657G>T (hg19) ; chr1:g.26324166G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26324166G>T , CM000663.2:g.26324166G>T	GRCh38
NC_000001.10:g.26650657G>T , CM000663.1:g.26650657G>T	GRCh37
NC_000001.9:g.26523244G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308182.10:c.4723C>A MANE Select	ENSP00000310435.6:p.Leu1575Met
ENST00000475866.3:c.5695C>A	ENSP00000428746.2:p.Leu1899Met
ENST00000308182.9:c.4723C>A	ENSP00000310435.6:p.Leu1575Met
ENST00000374208.1:n.201C>A
ENST00000374211.5:n.337C>A
ENST00000527815.5:c.2101C>A	ENSP00000433931.1:p.Leu701Met
NM_001039775.3:c.4723C>A	NP_001034864.2:p.Leu1575Met
XM_005245918.2:c.4723C>A	XP_005245975.1:p.Leu1575Met
XM_011541672.1:c.4687C>A	XP_011539974.1:p.Leu1563Met
XM_011541673.1:c.4894C>A	XP_011539975.1:p.Leu1632Met
XR_946681.1:n.5187C>A
XM_011541673.2:c.4894C>A	XP_011539975.1:p.Leu1632Met
XR_001737260.1:n.4746C>A
NM_001039775.4:c.4723C>A MANE Select	NP_001034864.2:p.Leu1575Met