Canonical Allele Identifier: CA350097081

Gene: CRYGC

Linked Data

• gnomAD v4: 2-208129547-G-C
• MyVariant Identifiers: chr2:g.208994271G>C (hg19) ; chr2:g.208129547G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129547G>C , CM000664.2:g.208129547G>C	GRCh38
NC_000002.11:g.208994271G>C , CM000664.1:g.208994271G>C	GRCh37
NC_000002.10:g.208702516G>C	NCBI36
NG_008038.1:g.5284C>G
NG_008039.1:g.43C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282141.4:c.146C>G MANE Select	ENSP00000282141.3:p.Pro49Arg
ENST00000282141.3:c.146C>G	ENSP00000282141.3:p.Pro49Arg
NM_020989.3:c.146C>G	NP_066269.1:p.Pro49Arg
NR_038437.1:n.98-7509G>C
XM_011510661.1:c.146C>G	XP_011508963.1:p.Pro49Arg
XM_011510662.1:c.146C>G	XP_011508964.1:p.Pro49Arg
XM_011510663.1:c.17C>G	XP_011508965.1:p.Pro6Arg
NM_020989.4:c.146C>G MANE Select	NP_066269.1:p.Pro49Arg