Canonical Allele Identifier: CA29640129
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1054105207
MyVariant Identifiers: chr1:g.116275365C>T (hg19) chr1:g.115732744C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732744C>T , CM000663.2:g.115732744C>T GRCh38
NC_000001.10:g.116275365C>T , CM000663.1:g.116275365C>T GRCh37
NC_000001.9:g.116076888C>T NCBI36
NG_008802.1:g.41062G>A , LRG_404:g.41062G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.330+157G>A ENSP00000518226.1:n.330+157G>A
ENST00000261448.6:c.606+157G>A MANE Select ENSP00000261448.5:n.606+157G>A
ENST00000261448.5:c.606+157G>A ENSP00000261448.5:n.606+157G>A
ENST00000488931.1:n.27+157G>A
NM_001232.3:c.606+157G>A , LRG_404t1:c.606+157G>A NP_001223.2:n.606+157G>A
NM_001232.4:c.606+157G>A MANE Select NP_001223.2:n.606+157G>A
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