Canonical Allele Identifier: CA386697760

Gene: MYL2

Linked Data

• COSMIC: COSM4704701
• MyVariant Identifiers: chr12:g.111350931G>A (hg19) ; chr12:g.110913127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110913127G>A , CM000674.2:g.110913127G>A	GRCh38
NC_000012.11:g.111350931G>A , CM000674.1:g.111350931G>A	GRCh37
NC_000012.10:g.109835314G>A	NCBI36
NG_007554.1:g.12451C>T , LRG_393:g.12451C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.371C>T MANE Select	ENSP00000228841.8:p.Thr124Ile
ENST00000663220.1:c.314C>T	ENSP00000499568.1:p.Thr105Ile
ENST00000228841.12:c.371C>T	ENSP00000228841.7:p.Thr124Ile
ENST00000548438.1:c.329C>T	ENSP00000447154.1:p.Thr110Ile
NM_000432.3:c.371C>T , LRG_393t1:c.371C>T	NP_000423.2:p.Thr124Ile
NM_000432.4:c.371C>T MANE Select	NP_000423.2:p.Thr124Ile