Canonical Allele Identifier: CA29640180
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs555185896
gnomAD v3: 1-115732832-G-A
gnomAD v4: 1-115732832-G-A
MyVariant Identifiers: chr1:g.116275453G>A (hg19) chr1:g.115732832G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732832G>A , CM000663.2:g.115732832G>A GRCh38
NC_000001.10:g.116275453G>A , CM000663.1:g.116275453G>A GRCh37
NC_000001.9:g.116076976G>A NCBI36
NG_008802.1:g.40974C>T , LRG_404:g.40974C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.330+69C>T ENSP00000518226.1:n.330+69C>T
ENST00000261448.6:c.606+69C>T MANE Select ENSP00000261448.5:n.606+69C>T
ENST00000261448.5:c.606+69C>T ENSP00000261448.5:n.606+69C>T
ENST00000488931.1:n.27+69C>T
NM_001232.3:c.606+69C>T , LRG_404t1:c.606+69C>T NP_001223.2:n.606+69C>T
NM_001232.4:c.606+69C>T MANE Select NP_001223.2:n.606+69C>T
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