Canonical Allele Identifier: CA1190726188
Gene: CASQ2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731232G= , CM000663.2:g.115731232G= GRCh38
NC_000001.10:g.116273853G= , CM000663.1:g.116273853G= GRCh37
NC_000001.9:g.116075376G= NCBI36
NG_008802.1:g.42574C= , LRG_404:g.42574C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.425+882C= ENSP00000518226.1:n.425+882C=
ENST00000261448.6:c.606+1669C= MANE Select ENSP00000261448.5:n.606+1669C=
ENST00000261448.5:c.606+1669C= ENSP00000261448.5:n.606+1669C=
ENST00000488931.1:n.122+882C=
NM_001232.3:c.606+1669C= , LRG_404t1:c.606+1669C= NP_001223.2:n.606+1669C=
NM_001232.4:c.606+1669C= MANE Select NP_001223.2:n.606+1669C=
Search 100 bp 5'
Search 100 bp 3'