Canonical Allele Identifier: CA64607554
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs947229524
gnomAD v2: 2-208988735-C-CA
gnomAD v3: 2-208124011-C-CA
gnomAD v4: 2-208124011-C-CA
MyVariant Identifiers: chr2:g.208988735_208988736insA (hg19) chr2:g.208124011_208124012insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124012dup , CM000664.2:g.208124012dup GRCh38
NC_000002.11:g.208988736dup , CM000664.1:g.208988736dup GRCh37
NC_000002.10:g.208696981dup NCBI36
NG_008039.1:g.5578dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.252+100dup MANE Select ENSP00000264376.4:n.252+100dup
ENST00000264376.4:c.252+100dup ENSP00000264376.4:n.252+100dup
NM_006891.3:c.252+100dup NP_008822.2:n.252+100dup
NR_038437.1:n.97+4787dup
NM_006891.4:c.252+100dup MANE Select NP_008822.2:n.252+100dup
Search 100 bp 5'
Search 100 bp 3'