Canonical Allele Identifier: CA1190726198
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731252C= , CM000663.2:g.115731252C= GRCh38
NC_000001.10:g.116273873C= , CM000663.1:g.116273873C= GRCh37
NC_000001.9:g.116075396C= NCBI36
NG_008802.1:g.42554G= , LRG_404:g.42554G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.425+862G= ENSP00000518226.1:n.425+862G=
ENST00000261448.6:c.606+1649G= MANE Select ENSP00000261448.5:n.606+1649G=
ENST00000261448.5:c.606+1649G= ENSP00000261448.5:n.606+1649G=
ENST00000488931.1:n.122+862G=
NM_001232.3:c.606+1649G= , LRG_404t1:c.606+1649G= NP_001223.2:n.606+1649G=
NM_001232.4:c.606+1649G= MANE Select NP_001223.2:n.606+1649G=