Canonical Allele Identifier: CA1023667
Community Standard Title: NM_001232.4(CASQ2):c.943G>A (p.Val315Ile)
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115702992C>T , CM000663.2:g.115702992C>T GRCh38
NC_000001.10:g.116245613C>T , CM000663.1:g.116245613C>T GRCh37
NC_000001.9:g.116047136C>T NCBI36
NG_008802.1:g.70814G>A , LRG_404:g.70814G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001232.4:c.943G>A MANE Select NP_001223.2:p.Val315Ile
ENST00000261448.6:c.943G>A MANE Select ENSP00000261448.5:p.Val315Ile
NM_001232.3:c.943G>A , LRG_404t1:c.943G>A NP_001223.2:p.Val315Ile
ENST00000261448.5:c.943G>A ENSP00000261448.5:p.Val315Ile
ENST00000488931.2:c.*315G>A ENSP00000518226.1:n.*315G>A