Canonical Allele Identifier: CA1140009145
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768577T= , CM000663.2:g.115768577T= GRCh38
NC_000001.10:g.116311198T= , CM000663.1:g.116311198T= GRCh37
NC_000001.9:g.116112721T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-89A= ENSP00000518226.1:n.-223-89A=
ENST00000261448.6:c.-36A= MANE Select ENSP00000261448.5:n.-36A=
ENST00000261448.5:c.-36A= ENSP00000261448.5:n.-36A=
NM_001232.4:c.-36A= MANE Select NP_001223.2:n.-36A=
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