Canonical Allele Identifier: CA009968
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 43461
ClinVar RCV Id: RCV000036387 RCV000484012 RCV002433497
dbSNP Id: rs397516399
MyVariant Identifiers: chr12:g.111352004C>G (hg19) chr12:g.110914200C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914200C>G , CM000674.2:g.110914200C>G GRCh38
NC_000012.11:g.111352004C>G , CM000674.1:g.111352004C>G GRCh37
NC_000012.10:g.109836387C>G NCBI36
NG_007554.1:g.11378G>C , LRG_393:g.11378G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.260G>C MANE Select ENSP00000228841.8:p.Gly87Ala
ENST00000663220.1:c.203G>C ENSP00000499568.1:p.Gly68Ala
ENST00000228841.12:c.260G>C ENSP00000228841.7:p.Gly87Ala
ENST00000548438.1:c.218G>C ENSP00000447154.1:p.Gly73Ala
ENST00000549029.1:n.91G>C
NM_000432.3:c.260G>C , LRG_393t1:c.260G>C NP_000423.2:p.Gly87Ala
NM_000432.4:c.260G>C MANE Select NP_000423.2:p.Gly87Ala
Search 100 bp 5'
Search 100 bp 3'