Canonical Allele Identifier: CA386698836

Gene: MYL2

Linked Data

• MyVariant Identifiers: chr12:g.111352077T>G (hg19) ; chr12:g.110914273T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110914273T>G , CM000674.2:g.110914273T>G	GRCh38
NC_000012.11:g.111352077T>G , CM000674.1:g.111352077T>G	GRCh37
NC_000012.10:g.109836460T>G	NCBI36
NG_007554.1:g.11305A>C , LRG_393:g.11305A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.187A>C MANE Select	ENSP00000228841.8:p.Asn63His
ENST00000663220.1:c.130A>C	ENSP00000499568.1:p.Asn44His
ENST00000228841.12:c.187A>C	ENSP00000228841.7:p.Asn63His
ENST00000548438.1:c.145A>C	ENSP00000447154.1:p.Asn49His
ENST00000549029.1:n.18A>C
NM_000432.3:c.187A>C , LRG_393t1:c.187A>C	NP_000423.2:p.Asn63His
NM_000432.4:c.187A>C MANE Select	NP_000423.2:p.Asn63His