Canonical Allele Identifier: CA2574141234

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768256C>T , CM000663.2:g.115768256C>T	GRCh38
NC_000001.10:g.116310877C>T , CM000663.1:g.116310877C>T	GRCh37
NC_000001.9:g.116112400C>T	NCBI36
NG_008802.1:g.5550G>A , LRG_404:g.5550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-43+52G>A	ENSP00000518226.1:n.-43+52G>A
ENST00000261448.6:c.234+52G>A MANE Select	ENSP00000261448.5:n.234+52G>A
ENST00000261448.5:c.234+52G>A	ENSP00000261448.5:n.234+52G>A
NM_001232.3:c.234+52G>A , LRG_404t1:c.234+52G>A	NP_001223.2:n.234+52G>A
NM_001232.4:c.234+52G>A MANE Select	NP_001223.2:n.234+52G>A