Canonical Allele Identifier: CA2077690
Gene: CRYGD HGNC NCBI

Linked Data

ClinVar Variation Id: 333872
ClinVar RCV Id: RCV000341011 RCV003758754
dbSNP Id: rs200111275
ExAC: 2:208988826 A / T
gnomAD v2: 2-208988826-A-T
gnomAD v3: 2-208124102-A-T
gnomAD v4: 2-208124102-A-T
MyVariant Identifiers: chr2:g.208988826A>T (hg19) chr2:g.208124102A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124102A>T , CM000664.2:g.208124102A>T GRCh38
NC_000002.11:g.208988826A>T , CM000664.1:g.208988826A>T GRCh37
NC_000002.10:g.208697071A>T NCBI36
NG_008039.1:g.5488T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.252+10T>A MANE Select ENSP00000264376.4:n.252+10T>A
ENST00000264376.4:c.252+10T>A ENSP00000264376.4:n.252+10T>A
NM_006891.3:c.252+10T>A NP_008822.2:n.252+10T>A
NR_038437.1:n.97+4877A>T
NM_006891.4:c.252+10T>A MANE Select NP_008822.2:n.252+10T>A
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