Canonical Allele Identifier: CA386698068
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111351101T>G (hg19) chr12:g.110913297T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913297T>G , CM000674.2:g.110913297T>G GRCh38
NC_000012.11:g.111351101T>G , CM000674.1:g.111351101T>G GRCh37
NC_000012.10:g.109835484T>G NCBI36
NG_007554.1:g.12281A>C , LRG_393:g.12281A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.302A>C MANE Select ENSP00000228841.8:p.Asn101Thr
ENST00000663220.1:c.245A>C ENSP00000499568.1:p.Asn82Thr
ENST00000228841.12:c.302A>C ENSP00000228841.7:p.Asn101Thr
ENST00000548438.1:c.260A>C ENSP00000447154.1:p.Asn87Thr
ENST00000549029.1:n.133A>C
NM_000432.3:c.302A>C , LRG_393t1:c.302A>C NP_000423.2:p.Asn101Thr
NM_000432.4:c.302A>C MANE Select NP_000423.2:p.Asn101Thr
Search 100 bp 5'
Search 100 bp 3'