Canonical Allele Identifier: CA341763875
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1457706230
gnomAD v2: 1-116280887-A-G
gnomAD v4: 1-115738266-A-G
MyVariant Identifiers: chr1:g.116280887A>G (hg19) chr1:g.115738266A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738266A>G , CM000663.2:g.115738266A>G GRCh38
NC_000001.10:g.116280887A>G , CM000663.1:g.116280887A>G GRCh37
NC_000001.9:g.116082410A>G NCBI36
NG_008802.1:g.35540T>C , LRG_404:g.35540T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.214T>C ENSP00000518226.1:p.Tyr72His
ENST00000261448.6:c.490T>C MANE Select ENSP00000261448.5:p.Tyr164His
ENST00000261448.5:c.490T>C ENSP00000261448.5:p.Tyr164His
NM_001232.3:c.490T>C , LRG_404t1:c.490T>C NP_001223.2:p.Tyr164His
NM_001232.4:c.490T>C MANE Select NP_001223.2:p.Tyr164His
Search 100 bp 5'
Search 100 bp 3'