Canonical Allele Identifier: CA2647280041
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738153G>A , CM000663.2:g.115738153G>A GRCh38
NC_000001.10:g.116280774G>A , CM000663.1:g.116280774G>A GRCh37
NC_000001.9:g.116082297G>A NCBI36
NG_008802.1:g.35653C>T , LRG_404:g.35653C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.256+71C>T ENSP00000518226.1:n.256+71C>T
ENST00000261448.6:c.532+71C>T MANE Select ENSP00000261448.5:n.532+71C>T
ENST00000261448.5:c.532+71C>T ENSP00000261448.5:n.532+71C>T
NM_001232.3:c.532+71C>T , LRG_404t1:c.532+71C>T NP_001223.2:n.532+71C>T
NM_001232.4:c.532+71C>T MANE Select NP_001223.2:n.532+71C>T