Canonical Allele Identifier: CA430964592
Gene: CRYGD HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.208988872G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124148G>C , CM000664.2:g.208124148G>C GRCh38
NC_000002.11:g.208988872G>C , CM000664.1:g.208988872G>C GRCh37
NC_000002.10:g.208697117G>C NCBI36
NG_008039.1:g.5442C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.216C>G MANE Select ENSP00000264376.4:p.Leu72=
ENST00000264376.4:c.216C>G ENSP00000264376.4:p.Leu72=
NM_006891.3:c.216C>G NP_008822.2:p.Leu72=
NR_038437.1:n.97+4923G>C
NM_006891.4:c.216C>G MANE Select NP_008822.2:p.Leu72=