Canonical Allele Identifier: CA430964616
Gene: CRYGD HGNC NCBI

Linked Data

dbSNP Id: rs1559318426
MyVariant Identifiers: chr2:g.208988917G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124193G>A , CM000664.2:g.208124193G>A GRCh38
NC_000002.11:g.208988917G>A , CM000664.1:g.208988917G>A GRCh37
NC_000002.10:g.208697162G>A NCBI36
NG_008039.1:g.5397C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264376.5:c.171C>T MANE Select ENSP00000264376.4:p.Phe57=
ENST00000264376.4:c.171C>T ENSP00000264376.4:p.Phe57=
NM_006891.3:c.171C>T NP_008822.2:p.Phe57=
NR_038437.1:n.97+4968G>A
NM_006891.4:c.171C>T MANE Select NP_008822.2:p.Phe57=