Canonical Allele Identifier: CA64607552
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs921088072
gnomAD v3: 2-208124006-A-C
gnomAD v4: 2-208124006-A-C
MyVariant Identifiers: chr2:g.208988730A>C (hg19) chr2:g.208124006A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124006A>C , CM000664.2:g.208124006A>C GRCh38
NC_000002.11:g.208988730A>C , CM000664.1:g.208988730A>C GRCh37
NC_000002.10:g.208696975A>C NCBI36
NG_008039.1:g.5584T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.252+106T>G MANE Select ENSP00000264376.4:n.252+106T>G
ENST00000264376.4:c.252+106T>G ENSP00000264376.4:n.252+106T>G
NM_006891.3:c.252+106T>G NP_008822.2:n.252+106T>G
NR_038437.1:n.97+4781A>C
NM_006891.4:c.252+106T>G MANE Select NP_008822.2:n.252+106T>G
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