Canonical Allele Identifier: CA1006058542
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1647772511
gnomAD v3: 1-115731230-C-T
gnomAD v4: 1-115731230-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731230C>T , CM000663.2:g.115731230C>T GRCh38
NC_000001.10:g.116273851C>T , CM000663.1:g.116273851C>T GRCh37
NC_000001.9:g.116075374C>T NCBI36
NG_008802.1:g.42576G>A , LRG_404:g.42576G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.425+884G>A ENSP00000518226.1:n.425+884G>A
ENST00000261448.6:c.606+1671G>A MANE Select ENSP00000261448.5:n.606+1671G>A
ENST00000261448.5:c.606+1671G>A ENSP00000261448.5:n.606+1671G>A
ENST00000488931.1:n.122+884G>A
NM_001232.3:c.606+1671G>A , LRG_404t1:c.606+1671G>A NP_001223.2:n.606+1671G>A
NM_001232.4:c.606+1671G>A MANE Select NP_001223.2:n.606+1671G>A
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