Canonical Allele Identifier: CA1190729376

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738512_115738517delinsGAACTT , CM000663.2:g.115738512_115738517delinsGAACTT	GRCh38
NC_000001.10:g.116281133_116281138delinsGAACTT , CM000663.1:g.116281133_116281138delinsGAACTT	GRCh37
NC_000001.9:g.116082656_116082661delinsGAACTT	NCBI36
NG_008802.1:g.35289_35294delinsAAGTTC , LRG_404:g.35289_35294delinsAAGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.145-182_145-177delinsAAGTTC	ENSP00000518226.1:n.145-182_145-177delinsAAGTTC
ENST00000261448.6:c.421-182_421-177delinsAAGTTC MANE Select	ENSP00000261448.5:n.421-182_421-177delinsAAGTTC
ENST00000261448.5:c.421-182_421-177delinsAAGTTC	ENSP00000261448.5:n.421-182_421-177delinsAAGTTC
NM_001232.3:c.421-182_421-177delinsAAGTTC , LRG_404t1:c.421-182_421-177delinsAAGTTC	NP_001223.2:n.421-182_421-177delinsAAGTTC
NM_001232.4:c.421-182_421-177delinsAAGTTC MANE Select	NP_001223.2:n.421-182_421-177delinsAAGTTC