Canonical Allele Identifier: CA350097418

Gene: CRYGC

Linked Data

• gnomAD v4: 2-208129610-G-T
• MyVariant Identifiers: chr2:g.208994334G>T (hg19) ; chr2:g.208129610G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129610G>T , CM000664.2:g.208129610G>T	GRCh38
NC_000002.11:g.208994334G>T , CM000664.1:g.208994334G>T	GRCh37
NC_000002.10:g.208702579G>T	NCBI36
NG_008038.1:g.5221C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282141.4:c.83C>A MANE Select	ENSP00000282141.3:p.Pro28Gln
ENST00000282141.3:c.83C>A	ENSP00000282141.3:p.Pro28Gln
NM_020989.3:c.83C>A	NP_066269.1:p.Pro28Gln
NR_038437.1:n.98-7446G>T
XM_011510661.1:c.83C>A	XP_011508963.1:p.Pro28Gln
XM_011510662.1:c.83C>A	XP_011508964.1:p.Pro28Gln
XM_011510663.1:c.-47C>A	XP_011508965.1:n.-47C>A
NM_020989.4:c.83C>A MANE Select	NP_066269.1:p.Pro28Gln