Canonical Allele Identifier: CA2557323824

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738483_115738484insAGAAGGAAATCTCTTGTTTGAACATGTGT , CM000663.2:g.115738483_115738484insAGAAGGAAATCTCTTGTTTGAACATGTGT	GRCh38
NC_000001.10:g.116281104_116281105insAGAAGGAAATCTCTTGTTTGAACATGTGT , CM000663.1:g.116281104_116281105insAGAAGGAAATCTCTTGTTTGAACATGTGT	GRCh37
NC_000001.9:g.116082627_116082628insAGAAGGAAATCTCTTGTTTGAACATGTGT	NCBI36
NG_008802.1:g.35322_35323insACACATGTTCAAACAAGAGATTTCCTTCT , LRG_404:g.35322_35323insACACATGTTCAAACAAGAGATTTCCTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.145-149_145-148insACACATGTTCAAACAAGAGATTTCCTTCT	ENSP00000518226.1:n.145-149_145-148insACACATGTTCAAACAAGAGATTT...
ENST00000261448.6:c.421-149_421-148insACACATGTTCAAACAAGAGATTTCCTTCT MANE Select	ENSP00000261448.5:n.421-149_421-148insACACATGTTCAAACAAGAGATTT...
ENST00000261448.5:c.421-149_421-148insACACATGTTCAAACAAGAGATTTCCTTCT	ENSP00000261448.5:n.421-149_421-148insACACATGTTCAAACAAGAGATTT...
NM_001232.3:c.421-149_421-148insACACATGTTCAAACAAGAGATTTCCTTCT , LRG_404t1:c.421-149_421-148insACACATGTTCAAACAAGAGATTTCCTTCT	NP_001223.2:n.421-149_421-148insACACATGTTCAAACAAGAGATTTCCTTCT...
NM_001232.4:c.421-149_421-148insACACATGTTCAAACAAGAGATTTCCTTCT MANE Select	NP_001223.2:n.421-149_421-148insACACATGTTCAAACAAGAGATTTCCTTCT...