Canonical Allele Identifier: CA1190715915
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700695T= , CM000663.2:g.115700695T= GRCh38
NC_000001.10:g.116243316T= , CM000663.1:g.116243316T= GRCh37
NC_000001.9:g.116044839T= NCBI36
NG_008802.1:g.73111A= , LRG_404:g.73111A=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*1118A= ENSP00000518226.1:n.*1118A=
ENST00000261448.6:c.*546A= MANE Select ENSP00000261448.5:n.*546A=
ENST00000261448.5:c.*546A= ENSP00000261448.5:n.*546A=
NM_001232.3:c.*546A= , LRG_404t1:c.*546A= NP_001223.2:n.*546A=
NM_001232.4:c.*546A= MANE Select NP_001223.2:n.*546A=
Search 100 bp 5'
Search 100 bp 3'