Canonical Allele Identifier: CA350090912
Gene: CRYGA HGNC NCBI

Linked Data

dbSNP Id: rs139353014
gnomAD v3: 2-208163217-C-A
gnomAD v4: 2-208163217-C-A
MyVariant Identifiers: chr2:g.209027941C>A (hg19) chr2:g.208163217C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208163217C>A , CM000664.2:g.208163217C>A GRCh38
NC_000002.11:g.209027941C>A , CM000664.1:g.209027941C>A GRCh37
NC_000002.10:g.208736186C>A NCBI36
NG_028157.1:g.5357G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000304502.5:c.239G>T MANE Select ENSP00000302105.4:p.Arg80Leu
ENST00000304502.4:c.239G>T ENSP00000302105.4:p.Arg80Leu
NM_014617.3:c.239G>T NP_055432.2:p.Arg80Leu
NM_014617.4:c.239G>T MANE Select NP_055432.2:p.Arg80Leu
Search 100 bp 5'
Search 100 bp 3'