Canonical Allele Identifier: CA6788120

Gene: MYL2

Linked Data

• dbSNP Id: rs761473235
• ExAC: 12:111352095 C / CTAGGG
• gnomAD v2: 12-111352095-C-CTAGGG
• gnomAD v4: 12-110914291-C-CTAGGG
• MyVariant Identifiers: chr12:g.111352095_111352096insTAGGG (hg19) ; chr12:g.110914291_110914292insTAGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110914296_110914300dup , CM000674.2:g.110914296_110914300dup	GRCh38
NC_000012.11:g.111352100_111352104dup , CM000674.1:g.111352100_111352104dup	GRCh37
NC_000012.10:g.109836483_109836487dup	NCBI36
NG_007554.1:g.11282_11286dup , LRG_393:g.11282_11286dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.170-6_170-2dup MANE Select	ENSP00000228841.8:n.170-6_170-2dup
ENST00000663220.1:c.113-6_113-2dup	ENSP00000499568.1:n.113-6_113-2dup
ENST00000228841.12:c.170-6_170-2dup	ENSP00000228841.7:n.170-6_170-2dup
ENST00000548438.1:c.122_126dup	ENSP00000447154.1:p.Gly43ProfsTer2
NM_000432.3:c.170-6_170-2dup , LRG_393t1:c.170-6_170-2dup	NP_000423.2:n.170-6_170-2dup
NM_000432.4:c.170-6_170-2dup MANE Select	NP_000423.2:n.170-6_170-2dup