Canonical Allele Identifier: CA350097315
Gene: CRYGC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.208994305C>G (hg19) chr2:g.208129581C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129581C>G , CM000664.2:g.208129581C>G GRCh38
NC_000002.11:g.208994305C>G , CM000664.1:g.208994305C>G GRCh37
NC_000002.10:g.208702550C>G NCBI36
NG_008038.1:g.5250G>C
NG_008039.1:g.9G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282141.4:c.112G>C MANE Select ENSP00000282141.3:p.Val38Leu
ENST00000282141.3:c.112G>C ENSP00000282141.3:p.Val38Leu
NM_020989.3:c.112G>C NP_066269.1:p.Val38Leu
NR_038437.1:n.98-7475C>G
XM_011510661.1:c.112G>C XP_011508963.1:p.Val38Leu
XM_011510662.1:c.112G>C XP_011508964.1:p.Val38Leu
XM_011510663.1:c.-18G>C XP_011508965.1:n.-18G>C
NM_020989.4:c.112G>C MANE Select NP_066269.1:p.Val38Leu
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