Canonical Allele Identifier: CA009904

Gene: MYL2

Linked Data

• ClinVar Variation Id: 36643
• ClinVar RCV Id: RCV000030321 ; RCV000612374 ; RCV000852686 ; RCV001650850 ; RCV003125845
• dbSNP Id: rs115522476
• ExAC: 12:111352113 A / G
• gnomAD v2: 12-111352113-A-G
• gnomAD v3: 12-110914309-A-G
• gnomAD v4: 12-110914309-A-G
• MyVariant Identifiers: chr12:g.111352113A>G (hg19) ; chr12:g.110914309A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110914309A>G , CM000674.2:g.110914309A>G	GRCh38
NC_000012.11:g.111352113A>G , CM000674.1:g.111352113A>G	GRCh37
NC_000012.10:g.109836496A>G	NCBI36
NG_007554.1:g.11269T>C , LRG_393:g.11269T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.170-19T>C MANE Select	ENSP00000228841.8:n.170-19T>C
ENST00000663220.1:c.113-19T>C	ENSP00000499568.1:n.113-19T>C
ENST00000228841.12:c.170-19T>C	ENSP00000228841.7:n.170-19T>C
ENST00000548438.1:c.109T>C	ENSP00000447154.1:p.Cys37Arg
NM_000432.3:c.170-19T>C , LRG_393t1:c.170-19T>C	NP_000423.2:n.170-19T>C
NM_000432.4:c.170-19T>C MANE Select	NP_000423.2:n.170-19T>C