Canonical Allele Identifier: CA341767363
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116311109C>G (hg19) chr1:g.115768488C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768488C>G , CM000663.2:g.115768488C>G GRCh38
NC_000001.10:g.116311109C>G , CM000663.1:g.116311109C>G GRCh37
NC_000001.9:g.116112632C>G NCBI36
NG_008802.1:g.5318G>C , LRG_404:g.5318G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223G>C ENSP00000518226.1:n.-223G>C
ENST00000261448.6:c.54G>C MANE Select ENSP00000261448.5:p.Arg18Ser
ENST00000261448.5:c.54G>C ENSP00000261448.5:p.Arg18Ser
NM_001232.3:c.54G>C , LRG_404t1:c.54G>C NP_001223.2:p.Arg18Ser
NM_001232.4:c.54G>C MANE Select NP_001223.2:p.Arg18Ser
Search 100 bp 5'
Search 100 bp 3'