Canonical Allele Identifier: CA386698885
Gene: MYL2 HGNC NCBI

Linked Data

gnomAD v4: 12-110914300-G-C
MyVariant Identifiers: chr12:g.111352104G>C (hg19) chr12:g.110914300G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914300G>C , CM000674.2:g.110914300G>C GRCh38
NC_000012.11:g.111352104G>C , CM000674.1:g.111352104G>C GRCh37
NC_000012.10:g.109836487G>C NCBI36
NG_007554.1:g.11278C>G , LRG_393:g.11278C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.170-10C>G MANE Select ENSP00000228841.8:n.170-10C>G
ENST00000663220.1:c.113-10C>G ENSP00000499568.1:n.113-10C>G
ENST00000228841.12:c.170-10C>G ENSP00000228841.7:n.170-10C>G
ENST00000548438.1:c.118C>G ENSP00000447154.1:p.Pro40Ala
NM_000432.3:c.170-10C>G , LRG_393t1:c.170-10C>G NP_000423.2:n.170-10C>G
NM_000432.4:c.170-10C>G MANE Select NP_000423.2:n.170-10C>G
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