Canonical Allele Identifier: CA1190726194
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731249T= , CM000663.2:g.115731249T= GRCh38
NC_000001.10:g.116273870T= , CM000663.1:g.116273870T= GRCh37
NC_000001.9:g.116075393T= NCBI36
NG_008802.1:g.42557A= , LRG_404:g.42557A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.425+865A= ENSP00000518226.1:n.425+865A=
ENST00000261448.6:c.606+1652A= MANE Select ENSP00000261448.5:n.606+1652A=
ENST00000261448.5:c.606+1652A= ENSP00000261448.5:n.606+1652A=
ENST00000488931.1:n.122+865A=
NM_001232.3:c.606+1652A= , LRG_404t1:c.606+1652A= NP_001223.2:n.606+1652A=
NM_001232.4:c.606+1652A= MANE Select NP_001223.2:n.606+1652A=
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