Canonical Allele Identifier: CA1190726146
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731148T= , CM000663.2:g.115731148T= GRCh38
NC_000001.10:g.116273769T= , CM000663.1:g.116273769T= GRCh37
NC_000001.9:g.116075292T= NCBI36
NG_008802.1:g.42658A= , LRG_404:g.42658A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.425+966A= ENSP00000518226.1:n.425+966A=
ENST00000261448.6:c.606+1753A= MANE Select ENSP00000261448.5:n.606+1753A=
ENST00000261448.5:c.606+1753A= ENSP00000261448.5:n.606+1753A=
ENST00000488931.1:n.122+966A=
NM_001232.3:c.606+1753A= , LRG_404t1:c.606+1753A= NP_001223.2:n.606+1753A=
NM_001232.4:c.606+1753A= MANE Select NP_001223.2:n.606+1753A=
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