Canonical Allele Identifier: CA350092626
Gene: CRYGD HGNC NCBI

Linked Data

gnomAD v4: 2-208124195-A-G
MyVariant Identifiers: chr2:g.208988919A>G (hg19) chr2:g.208124195A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124195A>G , CM000664.2:g.208124195A>G GRCh38
NC_000002.11:g.208988919A>G , CM000664.1:g.208988919A>G GRCh37
NC_000002.10:g.208697164A>G NCBI36
NG_008039.1:g.5395T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264376.5:c.169T>C MANE Select ENSP00000264376.4:p.Phe57Leu
ENST00000264376.4:c.169T>C ENSP00000264376.4:p.Phe57Leu
NM_006891.3:c.169T>C NP_008822.2:p.Phe57Leu
NR_038437.1:n.97+4970A>G
NM_006891.4:c.169T>C MANE Select NP_008822.2:p.Phe57Leu
Search 100 bp 5'
Search 100 bp 3'