Canonical Allele Identifier: CA2063070579

Gene: MYL2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110913225_110913227delinsTCC , CM000674.2:g.110913225_110913227delinsTCC	GRCh38
NC_000012.11:g.111351029_111351031delinsTCC , CM000674.1:g.111351029_111351031delinsTCC	GRCh37
NC_000012.10:g.109835412_109835414delinsTCC	NCBI36
NG_007554.1:g.12351_12353delinsGGA , LRG_393:g.12351_12353delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.353+19_353+21delinsGGA MANE Select	ENSP00000228841.8:n.353+19_353+21delinsGGA
ENST00000663220.1:c.296+19_296+21delinsGGA	ENSP00000499568.1:n.296+19_296+21delinsGGA
ENST00000228841.12:c.353+19_353+21delinsGGA	ENSP00000228841.7:n.353+19_353+21delinsGGA
ENST00000548438.1:c.311+19_311+21delinsGGA	ENSP00000447154.1:n.311+19_311+21delinsGGA
ENST00000549029.1:n.203_205delinsGGA
NM_000432.3:c.353+19_353+21delinsGGA , LRG_393t1:c.353+19_353+21delinsGGA	NP_000423.2:n.353+19_353+21delinsGGA
NM_000432.4:c.353+19_353+21delinsGGA MANE Select	NP_000423.2:n.353+19_353+21delinsGGA