Canonical Allele Identifier: CA1190729365
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738487T= , CM000663.2:g.115738487T= GRCh38
NC_000001.10:g.116281108T= , CM000663.1:g.116281108T= GRCh37
NC_000001.9:g.116082631T= NCBI36
NG_008802.1:g.35319A= , LRG_404:g.35319A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-152A= ENSP00000518226.1:n.145-152A=
ENST00000261448.6:c.421-152A= MANE Select ENSP00000261448.5:n.421-152A=
ENST00000261448.5:c.421-152A= ENSP00000261448.5:n.421-152A=
NM_001232.3:c.421-152A= , LRG_404t1:c.421-152A= NP_001223.2:n.421-152A=
NM_001232.4:c.421-152A= MANE Select NP_001223.2:n.421-152A=
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