Canonical Allele Identifier: CA386698868

Gene: MYL2

Linked Data

• COSMIC: COSM4038691
• MyVariant Identifiers: chr12:g.111352095C>A (hg19) ; chr12:g.110914291C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110914291C>A , CM000674.2:g.110914291C>A	GRCh38
NC_000012.11:g.111352095C>A , CM000674.1:g.111352095C>A	GRCh37
NC_000012.10:g.109836478C>A	NCBI36
NG_007554.1:g.11287G>T , LRG_393:g.11287G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000228841.15:c.170-1G>T MANE Select	ENSP00000228841.8:n.170-1G>T
ENST00000663220.1:c.113-1G>T	ENSP00000499568.1:n.113-1G>T
ENST00000228841.12:c.170-1G>T	ENSP00000228841.7:n.170-1G>T
ENST00000548438.1:c.127G>T	ENSP00000447154.1:p.Gly43Trp
NM_000432.3:c.170-1G>T , LRG_393t1:c.170-1G>T	NP_000423.2:n.170-1G>T
NM_000432.4:c.170-1G>T MANE Select	NP_000423.2:n.170-1G>T