Canonical Allele Identifier: CA11170951
Gene: CRYGC HGNC NCBI

Linked Data

ClinVar Variation Id: 1262083
ClinVar RCV Id: RCV001667202
dbSNP Id: rs2242073
gnomAD v2: 2-208994045-T-G
gnomAD v3: 2-208129321-T-G
gnomAD v4: 2-208129321-T-G
MyVariant Identifiers: chr2:g.208994045T>G (hg19) chr2:g.208129321T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129321T>G , CM000664.2:g.208129321T>G GRCh38
NC_000002.11:g.208994045T>G , CM000664.1:g.208994045T>G GRCh37
NC_000002.10:g.208702290T>G NCBI36
NG_008038.1:g.5510A>C
NG_008039.1:g.269A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.252+120A>C MANE Select ENSP00000282141.3:n.252+120A>C
ENST00000282141.3:c.252+120A>C ENSP00000282141.3:n.252+120A>C
NM_020989.3:c.252+120A>C NP_066269.1:n.252+120A>C
NR_038437.1:n.98-7735T>G
XM_011510661.1:c.252+120A>C XP_011508963.1:n.252+120A>C
XM_011510662.1:c.252+120A>C XP_011508964.1:n.252+120A>C
XM_011510663.1:c.123+120A>C XP_011508965.1:n.123+120A>C
NM_020989.4:c.252+120A>C MANE Select NP_066269.1:n.252+120A>C
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