Canonical Allele Identifier: CA386698645
Gene: MYL2 HGNC NCBI

Linked Data

gnomAD v4: 12-110914189-T-G
MyVariant Identifiers: chr12:g.111351993T>G (hg19) chr12:g.110914189T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914189T>G , CM000674.2:g.110914189T>G GRCh38
NC_000012.11:g.111351993T>G , CM000674.1:g.111351993T>G GRCh37
NC_000012.10:g.109836376T>G NCBI36
NG_007554.1:g.11389A>C , LRG_393:g.11389A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.271A>C MANE Select ENSP00000228841.8:p.Lys91Gln
ENST00000663220.1:c.214A>C ENSP00000499568.1:p.Lys72Gln
ENST00000228841.12:c.271A>C ENSP00000228841.7:p.Lys91Gln
ENST00000548438.1:c.229A>C ENSP00000447154.1:p.Lys77Gln
ENST00000549029.1:n.102A>C
NM_000432.3:c.271A>C , LRG_393t1:c.271A>C NP_000423.2:p.Lys91Gln
NM_000432.4:c.271A>C MANE Select NP_000423.2:p.Lys91Gln
Search 100 bp 5'
Search 100 bp 3'