Canonical Allele Identifier: CA1190726044

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115730876A= , CM000663.2:g.115730876A=	GRCh38
NC_000001.10:g.116273497A= , CM000663.1:g.116273497A=	GRCh37
NC_000001.9:g.116075020A=	NCBI36
NG_008802.1:g.42930T= , LRG_404:g.42930T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.425+1238T=	ENSP00000518226.1:n.425+1238T=
ENST00000261448.6:c.606+2025T= MANE Select	ENSP00000261448.5:n.606+2025T=
ENST00000261448.5:c.606+2025T=	ENSP00000261448.5:n.606+2025T=
ENST00000488931.1:n.122+1238T=
NM_001232.3:c.606+2025T= , LRG_404t1:c.606+2025T=	NP_001223.2:n.606+2025T=
NM_001232.4:c.606+2025T= MANE Select	NP_001223.2:n.606+2025T=