Canonical Allele Identifier: CA350092628
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs202233735
gnomAD v2: 2-208988920-G-T
gnomAD v3: 2-208124196-G-T
gnomAD v4: 2-208124196-G-T
MyVariant Identifiers: chr2:g.208988920G>T (hg19) chr2:g.208124196G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124196G>T , CM000664.2:g.208124196G>T GRCh38
NC_000002.11:g.208988920G>T , CM000664.1:g.208988920G>T GRCh37
NC_000002.10:g.208697165G>T NCBI36
NG_008039.1:g.5394C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264376.5:c.168C>A MANE Select ENSP00000264376.4:p.Tyr56Ter
ENST00000264376.4:c.168C>A ENSP00000264376.4:p.Tyr56Ter
NM_006891.3:c.168C>A NP_008822.2:p.Tyr56Ter
NR_038437.1:n.97+4971G>T
NM_006891.4:c.168C>A MANE Select NP_008822.2:p.Tyr56Ter
Search 100 bp 5'
Search 100 bp 3'