Canonical Allele Identifier: CA040607
Gene: MYL2 HGNC NCBI

Linked Data

dbSNP Id: rs745773458
ExAC: 12:111352101 T / C
gnomAD v2: 12-111352101-T-C
gnomAD v4: 12-110914297-T-C
MyVariant Identifiers: chr12:g.111352101T>C (hg19) chr12:g.110914297T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914297T>C , CM000674.2:g.110914297T>C GRCh38
NC_000012.11:g.111352101T>C , CM000674.1:g.111352101T>C GRCh37
NC_000012.10:g.109836484T>C NCBI36
NG_007554.1:g.11281A>G , LRG_393:g.11281A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.170-7A>G MANE Select ENSP00000228841.8:n.170-7A>G
ENST00000663220.1:c.113-7A>G ENSP00000499568.1:n.113-7A>G
ENST00000228841.12:c.170-7A>G ENSP00000228841.7:n.170-7A>G
ENST00000548438.1:c.121A>G ENSP00000447154.1:p.Thr41Ala
NM_000432.3:c.170-7A>G , LRG_393t1:c.170-7A>G NP_000423.2:n.170-7A>G
NM_000432.4:c.170-7A>G MANE Select NP_000423.2:n.170-7A>G
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