Canonical Allele Identifier: CA2077705

Gene: CRYGD

Linked Data

• dbSNP Id: rs545732643
• ExAC: 2:208988879 A / G
• gnomAD v2: 2-208988879-A-G
• gnomAD v3: 2-208124155-A-G
• gnomAD v4: 2-208124155-A-G
• MyVariant Identifiers: chr2:g.208988879A>G (hg19) ; chr2:g.208124155A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208124155A>G , CM000664.2:g.208124155A>G	GRCh38
NC_000002.11:g.208988879A>G , CM000664.1:g.208988879A>G	GRCh37
NC_000002.10:g.208697124A>G	NCBI36
NG_008039.1:g.5435T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264376.5:c.209T>C MANE Select	ENSP00000264376.4:p.Met70Thr
ENST00000264376.4:c.209T>C	ENSP00000264376.4:p.Met70Thr
NM_006891.3:c.209T>C	NP_008822.2:p.Met70Thr
NR_038437.1:n.97+4930A>G
NM_006891.4:c.209T>C MANE Select	NP_008822.2:p.Met70Thr