Canonical Allele Identifier: CA2077972

Gene: CRYGC

Linked Data

• ClinVar Variation Id: 1599427
• ClinVar RCV Id: RCV002115895
• dbSNP Id: rs367944766
• ExAC: 2:208994421 A / G
• gnomAD v2: 2-208994421-A-G
• gnomAD v3: 2-208129697-A-G
• gnomAD v4: 2-208129697-A-G
• MyVariant Identifiers: chr2:g.208994421A>G (hg19) ; chr2:g.208129697A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208129697A>G , CM000664.2:g.208129697A>G	GRCh38
NC_000002.11:g.208994421A>G , CM000664.1:g.208994421A>G	GRCh37
NC_000002.10:g.208702666A>G	NCBI36
NG_008038.1:g.5134T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000282141.4:c.10-14T>C MANE Select	ENSP00000282141.3:n.10-14T>C
ENST00000282141.3:c.10-14T>C	ENSP00000282141.3:n.10-14T>C
NM_020989.3:c.10-14T>C	NP_066269.1:n.10-14T>C
NR_038437.1:n.98-7359A>G
XM_011510661.1:c.10-14T>C	XP_011508963.1:n.10-14T>C
XM_011510662.1:c.10-14T>C	XP_011508964.1:n.10-14T>C
XM_011510663.1:c.-120-14T>C	XP_011508965.1:n.-120-14T>C
NM_020989.4:c.10-14T>C MANE Select	NP_066269.1:n.10-14T>C