Canonical Allele Identifier: CA431116247

Gene: CRYGC

Linked Data

• dbSNP Id: rs1040762144
• gnomAD v2: 2-208994308-G-T
• gnomAD v4: 2-208129584-G-T
• MyVariant Identifiers: chr2:g.208994308G>T (hg19) ; chr2:g.208129584G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129584G>T , CM000664.2:g.208129584G>T	GRCh38
NC_000002.11:g.208994308G>T , CM000664.1:g.208994308G>T	GRCh37
NC_000002.10:g.208702553G>T	NCBI36
NG_008038.1:g.5247C>A
NG_008039.1:g.6C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282141.4:c.109C>A MANE Select	ENSP00000282141.3:p.Arg37=
ENST00000282141.3:c.109C>A	ENSP00000282141.3:p.Arg37=
NM_020989.3:c.109C>A	NP_066269.1:p.Arg37=
NR_038437.1:n.98-7472G>T
XM_011510661.1:c.109C>A	XP_011508963.1:p.Arg37=
XM_011510662.1:c.109C>A	XP_011508964.1:p.Arg37=
XM_011510663.1:c.-21C>A	XP_011508965.1:n.-21C>A
NM_020989.4:c.109C>A MANE Select	NP_066269.1:p.Arg37=