Canonical Allele Identifier: CA539389022
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs1443535100
gnomAD v2: 2-208988736-A-G
gnomAD v3: 2-208124012-A-G
gnomAD v4: 2-208124012-A-G
MyVariant Identifiers: chr2:g.208988736A>G (hg19) chr2:g.208124012A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124012A>G , CM000664.2:g.208124012A>G GRCh38
NC_000002.11:g.208988736A>G , CM000664.1:g.208988736A>G GRCh37
NC_000002.10:g.208696981A>G NCBI36
NG_008039.1:g.5578T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.252+100T>C MANE Select ENSP00000264376.4:n.252+100T>C
ENST00000264376.4:c.252+100T>C ENSP00000264376.4:n.252+100T>C
NM_006891.3:c.252+100T>C NP_008822.2:n.252+100T>C
NR_038437.1:n.97+4787A>G
NM_006891.4:c.252+100T>C MANE Select NP_008822.2:n.252+100T>C
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