Canonical Allele Identifier: CA2647281256

Gene: CASQ2

Linked Data

• gnomAD v4: 1-115768576-C-CCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115768576_115768577insCAA , CM000663.2:g.115768576_115768577insCAA	GRCh38
NC_000001.10:g.116311197_116311198insCAA , CM000663.1:g.116311197_116311198insCAA	GRCh37
NC_000001.9:g.116112720_116112721insCAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.-223-89_-223-88insTTG	ENSP00000518226.1:n.-223-89_-223-88insTTG
ENST00000261448.6:c.-36_-35insTTG MANE Select	ENSP00000261448.5:n.-36_-35insTTG
ENST00000261448.5:c.-36_-35insTTG	ENSP00000261448.5:n.-36_-35insTTG
NM_001232.4:c.-36_-35insTTG MANE Select	NP_001223.2:n.-36_-35insTTG