Canonical Allele Identifier: CA1190715916
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1238241763
gnomAD v4: 1-115700695-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700695T>A , CM000663.2:g.115700695T>A GRCh38
NC_000001.10:g.116243316T>A , CM000663.1:g.116243316T>A GRCh37
NC_000001.9:g.116044839T>A NCBI36
NG_008802.1:g.73111A>T , LRG_404:g.73111A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*1118A>T ENSP00000518226.1:n.*1118A>T
ENST00000261448.6:c.*546A>T MANE Select ENSP00000261448.5:n.*546A>T
ENST00000261448.5:c.*546A>T ENSP00000261448.5:n.*546A>T
NM_001232.3:c.*546A>T , LRG_404t1:c.*546A>T NP_001223.2:n.*546A>T
NM_001232.4:c.*546A>T MANE Select NP_001223.2:n.*546A>T
Search 100 bp 5'
Search 100 bp 3'