Canonical Allele Identifier: CA15993808
Gene: CRYBB2P1 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.25479298T>C
GRCh37 chr22:g.25875265T>C
gnomAD v2:
22:25875265 T / C
gnomAD v3:
22:25479298 T / C
gnomAD v4:
chr22-25479298-T-C
Joint Max Group AF 0.56249724 (AFR)
Genomes Max Group AF 0.56250025 (AFR)
Exomes Max Group AF 0.01615191 (NFE)
dbSNP:
1930961
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.25479298T>C , CM000684.2:g.25479298T>C GRCh38
NC_000022.10:g.25875265T>C , CM000684.1:g.25875265T>C GRCh37
NC_000022.9:g.24205265T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000509460.3:n.564+19783T>C
ENST00000686640.1:n.570+19783T>C
ENST00000354451.6:n.366+19783T>C
ENST00000509460.2:n.288+19783T>C
XR_938096.1:n.2498T>C
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