Canonical Allele Identifier: CA1190729240
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738192G= , CM000663.2:g.115738192G= GRCh38
NC_000001.10:g.116280813G= , CM000663.1:g.116280813G= GRCh37
NC_000001.9:g.116082336G= NCBI36
NG_008802.1:g.35614C= , LRG_404:g.35614C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.256+32C= ENSP00000518226.1:n.256+32C=
ENST00000261448.6:c.532+32C= MANE Select ENSP00000261448.5:n.532+32C=
ENST00000261448.5:c.532+32C= ENSP00000261448.5:n.532+32C=
NM_001232.3:c.532+32C= , LRG_404t1:c.532+32C= NP_001223.2:n.532+32C=
NM_001232.4:c.532+32C= MANE Select NP_001223.2:n.532+32C=