Canonical Allele Identifier: CA1147976424
Gene: CASQ2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768251G= , CM000663.2:g.115768251G= GRCh38
NC_000001.10:g.116310872G= , CM000663.1:g.116310872G= GRCh37
NC_000001.9:g.116112395G= NCBI36
NG_008802.1:g.5555C= , LRG_404:g.5555C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-43+57C= ENSP00000518226.1:n.-43+57C=
ENST00000261448.6:c.234+57C= MANE Select ENSP00000261448.5:n.234+57C=
ENST00000261448.5:c.234+57C= ENSP00000261448.5:n.234+57C=
NM_001232.3:c.234+57C= , LRG_404t1:c.234+57C= NP_001223.2:n.234+57C=
NM_001232.4:c.234+57C= MANE Select NP_001223.2:n.234+57C=
Search 100 bp 5'
Search 100 bp 3'