Canonical Allele Identifier: CA2647281254
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768573A>G , CM000663.2:g.115768573A>G GRCh38
NC_000001.10:g.116311194A>G , CM000663.1:g.116311194A>G GRCh37
NC_000001.9:g.116112717A>G NCBI36
NG_008802.1:g.5233T>C , LRG_404:g.5233T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-85T>C ENSP00000518226.1:n.-223-85T>C
ENST00000261448.6:c.-32T>C MANE Select ENSP00000261448.5:n.-32T>C
ENST00000261448.5:c.-32T>C ENSP00000261448.5:n.-32T>C
NM_001232.3:c.-32T>C , LRG_404t1:c.-32T>C NP_001223.2:n.-32T>C
NM_001232.4:c.-32T>C MANE Select NP_001223.2:n.-32T>C