Canonical Allele Identifier: CA1190726839
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732728G= , CM000663.2:g.115732728G= GRCh38
NC_000001.10:g.116275349G= , CM000663.1:g.116275349G= GRCh37
NC_000001.9:g.116076872G= NCBI36
NG_008802.1:g.41078C= , LRG_404:g.41078C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.330+173C= ENSP00000518226.1:n.330+173C=
ENST00000261448.6:c.606+173C= MANE Select ENSP00000261448.5:n.606+173C=
ENST00000261448.5:c.606+173C= ENSP00000261448.5:n.606+173C=
ENST00000488931.1:n.27+173C=
NM_001232.3:c.606+173C= , LRG_404t1:c.606+173C= NP_001223.2:n.606+173C=
NM_001232.4:c.606+173C= MANE Select NP_001223.2:n.606+173C=
Search 100 bp 5'
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