Canonical Allele Identifier: CA885950341
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1244737125
gnomAD v3: 1-115738083-G-C
gnomAD v4: 1-115738083-G-C
MyVariant Identifiers: chr1:g.116280704G>C (hg19) chr1:g.115738083G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738083G>C , CM000663.2:g.115738083G>C GRCh38
NC_000001.10:g.116280704G>C , CM000663.1:g.116280704G>C GRCh37
NC_000001.9:g.116082227G>C NCBI36
NG_008802.1:g.35723C>G , LRG_404:g.35723C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.256+141C>G ENSP00000518226.1:n.256+141C>G
ENST00000261448.6:c.532+141C>G MANE Select ENSP00000261448.5:n.532+141C>G
ENST00000261448.5:c.532+141C>G ENSP00000261448.5:n.532+141C>G
NM_001232.3:c.532+141C>G , LRG_404t1:c.532+141C>G NP_001223.2:n.532+141C>G
NM_001232.4:c.532+141C>G MANE Select NP_001223.2:n.532+141C>G
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