Canonical Allele Identifier: CA341767476
Gene: CASQ2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.115768540A>G
GRCh37 chr1:g.116311161A>G
Revel Score:
ENST00000261448 (MANE Select) 0.576
ENST00000456138 0.576
ENST00000446755 0.576
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768540A>G , CM000663.2:g.115768540A>G GRCh38
NC_000001.10:g.116311161A>G , CM000663.1:g.116311161A>G GRCh37
NC_000001.9:g.116112684A>G NCBI36
NG_008802.1:g.5266T>C , LRG_404:g.5266T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-52T>C ENSP00000518226.1:n.-223-52T>C
ENST00000261448.6:c.2T>C MANE Select ENSP00000261448.5:p.Met1Thr
ENST00000261448.5:c.2T>C ENSP00000261448.5:p.Met1Thr
NM_001232.3:c.2T>C , LRG_404t1:c.2T>C NP_001223.2:p.Met1Thr
NM_001232.4:c.2T>C MANE Select NP_001223.2:p.Met1Thr
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