Canonical Allele Identifier: CA1145618371
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732980G= , CM000663.2:g.115732980G= GRCh38
NC_000001.10:g.116275601G= , CM000663.1:g.116275601G= GRCh37
NC_000001.9:g.116077124G= NCBI36
NG_008802.1:g.40826C= , LRG_404:g.40826C=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.257-6C= ENSP00000518226.1:n.257-6C=
ENST00000261448.6:c.533-6C= MANE Select ENSP00000261448.5:n.533-6C=
ENST00000261448.5:c.533-6C= ENSP00000261448.5:n.533-6C=
NM_001232.3:c.533-6C= , LRG_404t1:c.533-6C= NP_001223.2:n.533-6C=
NM_001232.4:c.533-6C= MANE Select NP_001223.2:n.533-6C=
Search 100 bp 5'
Search 100 bp 3'