Canonical Allele Identifier: CA1190729392

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115738541_115738542delinsTG , CM000663.2:g.115738541_115738542delinsTG	GRCh38
NC_000001.10:g.116281162_116281163delinsTG , CM000663.1:g.116281162_116281163delinsTG	GRCh37
NC_000001.9:g.116082685_116082686delinsTG	NCBI36
NG_008802.1:g.35264_35265delinsCA , LRG_404:g.35264_35265delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.145-207_145-206delinsCA	ENSP00000518226.1:n.145-207_145-206delinsCA
ENST00000261448.6:c.421-207_421-206delinsCA MANE Select	ENSP00000261448.5:n.421-207_421-206delinsCA
ENST00000261448.5:c.421-207_421-206delinsCA	ENSP00000261448.5:n.421-207_421-206delinsCA
NM_001232.3:c.421-207_421-206delinsCA , LRG_404t1:c.421-207_421-206delinsCA	NP_001223.2:n.421-207_421-206delinsCA
NM_001232.4:c.421-207_421-206delinsCA MANE Select	NP_001223.2:n.421-207_421-206delinsCA