Canonical Allele Identifier: CA2647280698
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115705127A>T , CM000663.2:g.115705127A>T GRCh38
NC_000001.10:g.116247748A>T , CM000663.1:g.116247748A>T GRCh37
NC_000001.9:g.116049271A>T NCBI36
NG_008802.1:g.68679T>A , LRG_404:g.68679T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*311+65T>A ENSP00000518226.1:n.*311+65T>A
ENST00000261448.6:c.939+65T>A MANE Select ENSP00000261448.5:n.939+65T>A
ENST00000261448.5:c.939+65T>A ENSP00000261448.5:n.939+65T>A
NM_001232.3:c.939+65T>A , LRG_404t1:c.939+65T>A NP_001223.2:n.939+65T>A
NM_001232.4:c.939+65T>A MANE Select NP_001223.2:n.939+65T>A