Canonical Allele Identifier: CA350096893

Gene: CRYGC

Linked Data

• dbSNP Id: rs1695060796
• gnomAD v3: 2-208129530-G-A
• gnomAD v4: 2-208129530-G-A
• MyVariant Identifiers: chr2:g.208994254G>A (hg19) ; chr2:g.208129530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129530G>A , CM000664.2:g.208129530G>A	GRCh38
NC_000002.11:g.208994254G>A , CM000664.1:g.208994254G>A	GRCh37
NC_000002.10:g.208702499G>A	NCBI36
NG_008038.1:g.5301C>T
NG_008039.1:g.60C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282141.4:c.163C>T MANE Select	ENSP00000282141.3:p.Gln55Ter
ENST00000282141.3:c.163C>T	ENSP00000282141.3:p.Gln55Ter
NM_020989.3:c.163C>T	NP_066269.1:p.Gln55Ter
NR_038437.1:n.98-7526G>A
XM_011510661.1:c.163C>T	XP_011508963.1:p.Gln55Ter
XM_011510662.1:c.163C>T	XP_011508964.1:p.Gln55Ter
XM_011510663.1:c.34C>T	XP_011508965.1:p.Gln12Ter
NM_020989.4:c.163C>T MANE Select	NP_066269.1:p.Gln55Ter