Canonical Allele Identifier: CA481750988
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111351994A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914190A>C , CM000674.2:g.110914190A>C GRCh38
NC_000012.11:g.111351994A>C , CM000674.1:g.111351994A>C GRCh37
NC_000012.10:g.109836377A>C NCBI36
NG_007554.1:g.11388T>G , LRG_393:g.11388T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.270T>G MANE Select ENSP00000228841.8:p.Leu90=
ENST00000663220.1:c.213T>G ENSP00000499568.1:p.Leu71=
ENST00000228841.12:c.270T>G ENSP00000228841.7:p.Leu90=
ENST00000548438.1:c.228T>G ENSP00000447154.1:p.Leu76=
ENST00000549029.1:n.101T>G
NM_000432.3:c.270T>G , LRG_393t1:c.270T>G NP_000423.2:p.Leu90=
NM_000432.4:c.270T>G MANE Select NP_000423.2:p.Leu90=
Search 100 bp 5'
Search 100 bp 3'