Canonical Allele Identifier: CA1190729191
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738111A= , CM000663.2:g.115738111A= GRCh38
NC_000001.10:g.116280732A= , CM000663.1:g.116280732A= GRCh37
NC_000001.9:g.116082255A= NCBI36
NG_008802.1:g.35695T= , LRG_404:g.35695T=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.256+113T= ENSP00000518226.1:n.256+113T=
ENST00000261448.6:c.532+113T= MANE Select ENSP00000261448.5:n.532+113T=
ENST00000261448.5:c.532+113T= ENSP00000261448.5:n.532+113T=
NM_001232.3:c.532+113T= , LRG_404t1:c.532+113T= NP_001223.2:n.532+113T=
NM_001232.4:c.532+113T= MANE Select NP_001223.2:n.532+113T=
Search 100 bp 5'
Search 100 bp 3'