Canonical Allele Identifier: CA1144959717
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700669C= , CM000663.2:g.115700669C= GRCh38
NC_000001.10:g.116243290C= , CM000663.1:g.116243290C= GRCh37
NC_000001.9:g.116044813C= NCBI36
NG_008802.1:g.73137G= , LRG_404:g.73137G=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*1144G= ENSP00000518226.1:n.*1144G=
ENST00000261448.6:c.*572G= MANE Select ENSP00000261448.5:n.*572G=
ENST00000261448.5:c.*572G= ENSP00000261448.5:n.*572G=
NM_001232.3:c.*572G= , LRG_404t1:c.*572G= NP_001223.2:n.*572G=
NM_001232.4:c.*572G= MANE Select NP_001223.2:n.*572G=
Search 100 bp 5'
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