Canonical Allele Identifier: CA1190742468
Gene: CASQ2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768297T= , CM000663.2:g.115768297T= GRCh38
NC_000001.10:g.116310918T= , CM000663.1:g.116310918T= GRCh37
NC_000001.9:g.116112441T= NCBI36
NG_008802.1:g.5509A= , LRG_404:g.5509A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-43+11A= ENSP00000518226.1:n.-43+11A=
ENST00000261448.6:c.234+11A= MANE Select ENSP00000261448.5:n.234+11A=
ENST00000261448.5:c.234+11A= ENSP00000261448.5:n.234+11A=
NM_001232.3:c.234+11A= , LRG_404t1:c.234+11A= NP_001223.2:n.234+11A=
NM_001232.4:c.234+11A= MANE Select NP_001223.2:n.234+11A=
Search 100 bp 5'
Search 100 bp 3'