Canonical Allele Identifier: CA2077697

Gene: CRYGD

Linked Data

• dbSNP Id: rs372878552
• ExAC: 2:208988838 G / C
• gnomAD v2: 2-208988838-G-C
• gnomAD v3: 2-208124114-G-C
• gnomAD v4: 2-208124114-G-C
• MyVariant Identifiers: chr2:g.208988838G>C (hg19) ; chr2:g.208124114G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208124114G>C , CM000664.2:g.208124114G>C	GRCh38
NC_000002.11:g.208988838G>C , CM000664.1:g.208988838G>C	GRCh37
NC_000002.10:g.208697083G>C	NCBI36
NG_008039.1:g.5476C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264376.5:c.250C>G MANE Select	ENSP00000264376.4:p.His84Asp
ENST00000264376.4:c.250C>G	ENSP00000264376.4:p.His84Asp
NM_006891.3:c.250C>G	NP_008822.2:p.His84Asp
NR_038437.1:n.97+4889G>C
NM_006891.4:c.250C>G MANE Select	NP_008822.2:p.His84Asp