Canonical Allele Identifier: CA2647281247
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115768565-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768565T>C , CM000663.2:g.115768565T>C GRCh38
NC_000001.10:g.116311186T>C , CM000663.1:g.116311186T>C GRCh37
NC_000001.9:g.116112709T>C NCBI36
NG_008802.1:g.5241A>G , LRG_404:g.5241A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-77A>G ENSP00000518226.1:n.-223-77A>G
ENST00000261448.6:c.-24A>G MANE Select ENSP00000261448.5:n.-24A>G
ENST00000261448.5:c.-24A>G ENSP00000261448.5:n.-24A>G
NM_001232.3:c.-24A>G , LRG_404t1:c.-24A>G NP_001223.2:n.-24A>G
NM_001232.4:c.-24A>G MANE Select NP_001223.2:n.-24A>G
Search 100 bp 5'
Search 100 bp 3'