Canonical Allele Identifier: CA2077947
Gene: CRYGC HGNC NCBI

Linked Data

dbSNP Id: rs184571576
ExAC: 2:208994297 G / T
gnomAD v2: 2-208994297-G-T
gnomAD v4: 2-208129573-G-T
MyVariant Identifiers: chr2:g.208994297G>T (hg19) chr2:g.208129573G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129573G>T , CM000664.2:g.208129573G>T GRCh38
NC_000002.11:g.208994297G>T , CM000664.1:g.208994297G>T GRCh37
NC_000002.10:g.208702542G>T NCBI36
NG_008038.1:g.5258C>A
NG_008039.1:g.17C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.120C>A MANE Select ENSP00000282141.3:p.Ser40Arg
ENST00000282141.3:c.120C>A ENSP00000282141.3:p.Ser40Arg
NM_020989.3:c.120C>A NP_066269.1:p.Ser40Arg
NR_038437.1:n.98-7483G>T
XM_011510661.1:c.120C>A XP_011508963.1:p.Ser40Arg
XM_011510662.1:c.120C>A XP_011508964.1:p.Ser40Arg
XM_011510663.1:c.-10C>A XP_011508965.1:n.-10C>A
NM_020989.4:c.120C>A MANE Select NP_066269.1:p.Ser40Arg
Search 100 bp 5'
Search 100 bp 3'