Canonical Allele Identifier: CA210965
Gene: CASQ2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.115738349C>T
GRCh37 chr1:g.116280970C>T
gnomAD v2:
1:116280970 C / T
gnomAD v3:
1:115738349 C / T
gnomAD v4:
chr1-115738349-C-T
Joint Max Group AF 0.0018153 (NFE)
Genomes Max Group AF 0.00173881 (NFE)
Exomes Max Group AF 0.00180415 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738349C>T , CM000663.2:g.115738349C>T GRCh38
NC_000001.10:g.116280970C>T , CM000663.1:g.116280970C>T GRCh37
NC_000001.9:g.116082493C>T NCBI36
NG_008802.1:g.35457G>A , LRG_404:g.35457G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-14G>A ENSP00000518226.1:n.145-14G>A
ENST00000261448.6:c.421-14G>A MANE Select ENSP00000261448.5:n.421-14G>A
ENST00000261448.5:c.421-14G>A ENSP00000261448.5:n.421-14G>A
NM_001232.3:c.421-14G>A , LRG_404t1:c.421-14G>A NP_001223.2:n.421-14G>A
NM_001232.4:c.421-14G>A MANE Select NP_001223.2:n.421-14G>A
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Search 100 bp 3'