Canonical Allele Identifier: CA339136403

Gene: CRYBG2

Linked Data

• MyVariant Identifiers: chr1:g.26650656A>G (hg19) ; chr1:g.26324165A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26324165A>G , CM000663.2:g.26324165A>G	GRCh38
NC_000001.10:g.26650656A>G , CM000663.1:g.26650656A>G	GRCh37
NC_000001.9:g.26523243A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308182.10:c.4724T>C MANE Select	ENSP00000310435.6:p.Leu1575Pro
ENST00000475866.3:c.5696T>C	ENSP00000428746.2:p.Leu1899Pro
ENST00000308182.9:c.4724T>C	ENSP00000310435.6:p.Leu1575Pro
ENST00000374208.1:n.202T>C
ENST00000374211.5:n.338T>C
ENST00000527815.5:c.2102T>C	ENSP00000433931.1:p.Leu701Pro
NM_001039775.3:c.4724T>C	NP_001034864.2:p.Leu1575Pro
XM_005245918.2:c.4724T>C	XP_005245975.1:p.Leu1575Pro
XM_011541672.1:c.4688T>C	XP_011539974.1:p.Leu1563Pro
XM_011541673.1:c.4895T>C	XP_011539975.1:p.Leu1632Pro
XR_946681.1:n.5188T>C
XM_011541673.2:c.4895T>C	XP_011539975.1:p.Leu1632Pro
XR_001737260.1:n.4747T>C
NM_001039775.4:c.4724T>C MANE Select	NP_001034864.2:p.Leu1575Pro