Canonical Allele Identifier: CA2063066385
Gene: MYL2 HGNC NCBI

Linked Data

dbSNP Id: rs2071646297
gnomAD v4: 12-110911018-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911018A>G , CM000674.2:g.110911018A>G GRCh38
NC_000012.11:g.111348822A>G , CM000674.1:g.111348822A>G GRCh37
NC_000012.10:g.109833205A>G NCBI36
NG_007554.1:g.14560T>C , LRG_393:g.14560T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.*59T>C MANE Select ENSP00000228841.8:n.*59T>C
ENST00000663220.1:c.*59T>C ENSP00000499568.1:n.*59T>C
ENST00000228841.12:c.*59T>C ENSP00000228841.7:n.*59T>C
ENST00000548438.1:c.*59T>C ENSP00000447154.1:n.*59T>C
NM_000432.3:c.*59T>C , LRG_393t1:c.*59T>C NP_000423.2:n.*59T>C
NM_000432.4:c.*59T>C MANE Select NP_000423.2:n.*59T>C
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