Canonical Allele Identifier: CA2797450852

Gene: MYL2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110914299_110914300insTGAAGGCCTCCTTAAATTCCTGGATTTGGGTCTGTTC , CM000674.2:g.110914299_110914300insTGAAGGCCTCCTTAAATTCCTGGATTTGGGTCTGTTC	GRCh38
NC_000012.11:g.111352103_111352104insTGAAGGCCTCCTTAAATTCCTGGATTTGGGTCTGTTC , CM000674.1:g.111352103_111352104insTGAAGGCCTCCTTAAATTCCTGGATTTGGGTCTGTTC	GRCh37
NC_000012.10:g.109836486_109836487insTGAAGGCCTCCTTAAATTCCTGGATTTGGGTCTGTTC	NCBI36
NG_007554.1:g.11278_11279insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA , LRG_393:g.11278_11279insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.170-10_170-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA MANE Select	ENSP00000228841.8:n.170-10_170-9insGAACAGACCCAAATCCAGGAATTTAA...
ENST00000663220.1:c.113-10_113-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA	ENSP00000499568.1:n.113-10_113-9insGAACAGACCCAAATCCAGGAATTTAA...
ENST00000228841.12:c.170-10_170-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA	ENSP00000228841.7:n.170-10_170-9insGAACAGACCCAAATCCAGGAATTTAA...
ENST00000548438.1:c.118_119insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA	ENSP00000447154.1:p.Pro40ArgfsTer9
NM_000432.3:c.170-10_170-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA , LRG_393t1:c.170-10_170-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA	NP_000423.2:n.170-10_170-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGC...
NM_000432.4:c.170-10_170-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA MANE Select	NP_000423.2:n.170-10_170-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGC...