Canonical Allele Identifier: CA29603752
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs555419847
MyVariant Identifiers: chr1:g.116281051T>A (hg19) chr1:g.115738430T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738430T>A , CM000663.2:g.115738430T>A GRCh38
NC_000001.10:g.116281051T>A , CM000663.1:g.116281051T>A GRCh37
NC_000001.9:g.116082574T>A NCBI36
NG_008802.1:g.35376A>T , LRG_404:g.35376A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-95A>T ENSP00000518226.1:n.145-95A>T
ENST00000261448.6:c.421-95A>T MANE Select ENSP00000261448.5:n.421-95A>T
ENST00000261448.5:c.421-95A>T ENSP00000261448.5:n.421-95A>T
NM_001232.3:c.421-95A>T , LRG_404t1:c.421-95A>T NP_001223.2:n.421-95A>T
NM_001232.4:c.421-95A>T MANE Select NP_001223.2:n.421-95A>T
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