Canonical Allele Identifier: CA350096982

Gene: CRYGC

Linked Data

• dbSNP Id: rs1335843513
• gnomAD v2: 2-208994260-C-T
• gnomAD v4: 2-208129536-C-T
• MyVariant Identifiers: chr2:g.208994260C>T (hg19) ; chr2:g.208129536C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129536C>T , CM000664.2:g.208129536C>T	GRCh38
NC_000002.11:g.208994260C>T , CM000664.1:g.208994260C>T	GRCh37
NC_000002.10:g.208702505C>T	NCBI36
NG_008038.1:g.5295G>A
NG_008039.1:g.54G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282141.4:c.157G>A MANE Select	ENSP00000282141.3:p.Gly53Ser
ENST00000282141.3:c.157G>A	ENSP00000282141.3:p.Gly53Ser
NM_020989.3:c.157G>A	NP_066269.1:p.Gly53Ser
NR_038437.1:n.98-7520C>T
XM_011510661.1:c.157G>A	XP_011508963.1:p.Gly53Ser
XM_011510662.1:c.157G>A	XP_011508964.1:p.Gly53Ser
XM_011510663.1:c.28G>A	XP_011508965.1:p.Gly10Ser
NM_020989.4:c.157G>A MANE Select	NP_066269.1:p.Gly53Ser