Canonical Allele Identifier: CA430964565
Gene: CRYGD HGNC NCBI

Linked Data

ClinVar Variation Id: 897167
ClinVar RCV Id: RCV001140306
dbSNP Id: rs775032143
gnomAD v2: 2-208988836-G-A
gnomAD v4: 2-208124112-G-A
COSMIC: COSM1015563
MyVariant Identifiers: chr2:g.208988836G>A (hg19) chr2:g.208124112G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124112G>A , CM000664.2:g.208124112G>A GRCh38
NC_000002.11:g.208988836G>A , CM000664.1:g.208988836G>A GRCh37
NC_000002.10:g.208697081G>A NCBI36
NG_008039.1:g.5478C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.252C>T MANE Select ENSP00000264376.4:p.His84=
ENST00000264376.4:c.252C>T ENSP00000264376.4:p.His84=
NM_006891.3:c.252C>T NP_008822.2:p.His84=
NR_038437.1:n.97+4887G>A
NM_006891.4:c.252C>T MANE Select NP_008822.2:p.His84=
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Search 100 bp 3'