Canonical Allele Identifier: CA1023822
Community Standard Title: NM_001232.4(CASQ2):c.673A>G (p.Ile225Val)
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115727056T>C , CM000663.2:g.115727056T>C GRCh38
NC_000001.10:g.116269677T>C , CM000663.1:g.116269677T>C GRCh37
NC_000001.9:g.116071200T>C NCBI36
NG_008802.1:g.46750A>G , LRG_404:g.46750A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001232.4:c.673A>G MANE Select NP_001223.2:p.Ile225Val
ENST00000261448.6:c.673A>G MANE Select ENSP00000261448.5:p.Ile225Val
NM_001232.3:c.673A>G , LRG_404t1:c.673A>G NP_001223.2:p.Ile225Val
ENST00000261448.5:c.673A>G ENSP00000261448.5:p.Ile225Val
ENST00000488931.1:n.189A>G
ENST00000488931.2:c.*45A>G ENSP00000518226.1:n.*45A>G