Canonical Allele Identifier: CA1140803104
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732817A= , CM000663.2:g.115732817A= GRCh38
NC_000001.10:g.116275438A= , CM000663.1:g.116275438A= GRCh37
NC_000001.9:g.116076961A= NCBI36
NG_008802.1:g.40989T= , LRG_404:g.40989T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.330+84T= ENSP00000518226.1:n.330+84T=
ENST00000261448.6:c.606+84T= MANE Select ENSP00000261448.5:n.606+84T=
ENST00000261448.5:c.606+84T= ENSP00000261448.5:n.606+84T=
ENST00000488931.1:n.27+84T=
NM_001232.3:c.606+84T= , LRG_404t1:c.606+84T= NP_001223.2:n.606+84T=
NM_001232.4:c.606+84T= MANE Select NP_001223.2:n.606+84T=