Canonical Allele Identifier: CA1190729174
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738057C= , CM000663.2:g.115738057C= GRCh38
NC_000001.10:g.116280678C= , CM000663.1:g.116280678C= GRCh37
NC_000001.9:g.116082201C= NCBI36
NG_008802.1:g.35749G= , LRG_404:g.35749G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.256+167G= ENSP00000518226.1:n.256+167G=
ENST00000261448.6:c.532+167G= MANE Select ENSP00000261448.5:n.532+167G=
ENST00000261448.5:c.532+167G= ENSP00000261448.5:n.532+167G=
NM_001232.3:c.532+167G= , LRG_404t1:c.532+167G= NP_001223.2:n.532+167G=
NM_001232.4:c.532+167G= MANE Select NP_001223.2:n.532+167G=
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