Canonical Allele Identifier: CA1190729225
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738162T= , CM000663.2:g.115738162T= GRCh38
NC_000001.10:g.116280783T= , CM000663.1:g.116280783T= GRCh37
NC_000001.9:g.116082306T= NCBI36
NG_008802.1:g.35644A= , LRG_404:g.35644A=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.256+62A= ENSP00000518226.1:n.256+62A=
ENST00000261448.6:c.532+62A= MANE Select ENSP00000261448.5:n.532+62A=
ENST00000261448.5:c.532+62A= ENSP00000261448.5:n.532+62A=
NM_001232.3:c.532+62A= , LRG_404t1:c.532+62A= NP_001223.2:n.532+62A=
NM_001232.4:c.532+62A= MANE Select NP_001223.2:n.532+62A=