Canonical Allele Identifier: CA2797450849

Gene: MYL2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110914296_110914297insCAGCAAAGGTGTCTCTCAGATCGTTCTTGTCAATGAAGCCATCCCTGTTCTGGTCCATGA , CM000674.2:g.110914296_110914297insCAGCAAAGGTGTCTCTCAGATCGTTCTTGTCAATGAAGCCATCCCTGTTCTGGTCCATGA	GRCh38
NC_000012.11:g.111352100_111352101insCAGCAAAGGTGTCTCTCAGATCGTTCTTGTCAATGAAGCCATCCCTGTTCTGGTCCATGA , CM000674.1:g.111352100_111352101insCAGCAAAGGTGTCTCTCAGATCGTTCTTGTCAATGAAGCCATCCCTGTTCTGGTCCATGA	GRCh37
NC_000012.10:g.109836483_109836484insCAGCAAAGGTGTCTCTCAGATCGTTCTTGTCAATGAAGCCATCCCTGTTCTGGTCCATGA	NCBI36
NG_007554.1:g.11281_11282insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG , LRG_393:g.11281_11282insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.170-7_170-6insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG MANE Select	ENSP00000228841.8:n.170-7_170-6insTCATGGACCAGAACAGGGATGGCTTCA...
ENST00000663220.1:c.113-7_113-6insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG	ENSP00000499568.1:n.113-7_113-6insTCATGGACCAGAACAGGGATGGCTTCA...
ENST00000228841.12:c.170-7_170-6insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG	ENSP00000228841.7:n.170-7_170-6insTCATGGACCAGAACAGGGATGGCTTCA...
ENST00000548438.1:c.121_122insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG	ENSP00000447154.1:p.Thr41delinsIleMetAspGlnAsnArgAspGlyPheIle...
NM_000432.3:c.170-7_170-6insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG , LRG_393t1:c.170-7_170-6insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG	NP_000423.2:n.170-7_170-6insTCATGGACCAGAACAGGGATGGCTTCATTGACA...
NM_000432.4:c.170-7_170-6insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG MANE Select	NP_000423.2:n.170-7_170-6insTCATGGACCAGAACAGGGATGGCTTCATTGACA...