Canonical Allele Identifier: CA481750989
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111351994A>G (hg19)
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Genomic Alleles

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

Transcript Alleles

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