Canonical Allele Identifier: CA1190729398
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738554T= , CM000663.2:g.115738554T= GRCh38
NC_000001.10:g.116281175T= , CM000663.1:g.116281175T= GRCh37
NC_000001.9:g.116082698T= NCBI36
NG_008802.1:g.35252A= , LRG_404:g.35252A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-219A= ENSP00000518226.1:n.145-219A=
ENST00000261448.6:c.421-219A= MANE Select ENSP00000261448.5:n.421-219A=
ENST00000261448.5:c.421-219A= ENSP00000261448.5:n.421-219A=
NM_001232.3:c.421-219A= , LRG_404t1:c.421-219A= NP_001223.2:n.421-219A=
NM_001232.4:c.421-219A= MANE Select NP_001223.2:n.421-219A=