Canonical Allele Identifier: CA243562021
Gene: MYL2 HGNC NCBI

Linked Data

dbSNP Id: rs550818109
gnomAD v4: 12-110914085-A-C
MyVariant Identifiers: chr12:g.111351889A>C (hg19) chr12:g.110914085A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914085A>C , CM000674.2:g.110914085A>C GRCh38
NC_000012.11:g.111351889A>C , CM000674.1:g.111351889A>C GRCh37
NC_000012.10:g.109836272A>C NCBI36
NG_007554.1:g.11493T>G , LRG_393:g.11493T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.274+101T>G MANE Select ENSP00000228841.8:n.274+101T>G
ENST00000663220.1:c.217+101T>G ENSP00000499568.1:n.217+101T>G
ENST00000228841.12:c.274+101T>G ENSP00000228841.7:n.274+101T>G
ENST00000548438.1:c.232+101T>G ENSP00000447154.1:n.232+101T>G
ENST00000549029.1:n.105+101T>G
NM_000432.3:c.274+101T>G , LRG_393t1:c.274+101T>G NP_000423.2:n.274+101T>G
NM_000432.4:c.274+101T>G MANE Select NP_000423.2:n.274+101T>G
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