Canonical Allele Identifier: CA2647281144
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115768188-T-TA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768191dup , CM000663.2:g.115768191dup GRCh38
NC_000001.10:g.116310812dup , CM000663.1:g.116310812dup GRCh37
NC_000001.9:g.116112335dup NCBI36
NG_008802.1:g.5617dup , LRG_404:g.5617dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-43+119dup ENSP00000518226.1:n.-43+119dup
ENST00000261448.6:c.234+119dup MANE Select ENSP00000261448.5:n.234+119dup
ENST00000261448.5:c.234+119dup ENSP00000261448.5:n.234+119dup
NM_001232.3:c.234+119dup , LRG_404t1:c.234+119dup NP_001223.2:n.234+119dup
NM_001232.4:c.234+119dup MANE Select NP_001223.2:n.234+119dup
Search 100 bp 5'
Search 100 bp 3'