Canonical Allele Identifier: CA2077694
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs775032143
ExAC: 2:208988836 G / T
gnomAD v2: 2-208988836-G-T
gnomAD v3: 2-208124112-G-T
gnomAD v4: 2-208124112-G-T
MyVariant Identifiers: chr2:g.208988836G>T (hg19) chr2:g.208124112G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.252C>A MANE Select ENSP00000264376.4:p.His84Gln
ENST00000264376.4:c.252C>A ENSP00000264376.4:p.His84Gln
NM_006891.3:c.252C>A NP_008822.2:p.His84Gln
NR_038437.1:n.97+4887G>T
NM_006891.4:c.252C>A MANE Select NP_008822.2:p.His84Gln
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