Canonical Allele Identifier: CA15144586
Gene: CASQ2 HGNC NCBI
COSMIC:
COSN6504040
dbSNP:
6684209
gnomAD v2:
1:116250612 C / T
gnomAD v3:
1:115707991 C / T
gnomAD v4:
chr1-115707991-C-T
Joint Max Group AF 0.23667071 (EAS)
Genomes Max Group AF 0.23667071 (EAS)
MyVariant.info:
GRCh38 chr1:g.115707991C>T
GRCh37 chr1:g.116250612C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115707991C>T , CM000663.2:g.115707991C>T GRCh38
NC_000001.10:g.116250612C>T , CM000663.1:g.116250612C>T GRCh37
NC_000001.9:g.116052135C>T NCBI36
NG_008802.1:g.65815G>A , LRG_404:g.65815G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*211-2699G>A ENSP00000518226.1:n.*211-2699G>A
ENST00000261448.6:c.839-2699G>A MANE Select ENSP00000261448.5:n.839-2699G>A
ENST00000261448.5:c.839-2699G>A ENSP00000261448.5:n.839-2699G>A
NM_001232.3:c.839-2699G>A , LRG_404t1:c.839-2699G>A NP_001223.2:n.839-2699G>A
NM_001232.4:c.839-2699G>A MANE Select NP_001223.2:n.839-2699G>A
Search 100 bp 5'
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