Canonical Allele Identifier: CA2620916416
Gene: MYL2 HGNC NCBI

Linked Data

gnomAD v4: 12-110911022-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911023del , CM000674.2:g.110911023del GRCh38
NC_000012.11:g.111348827del , CM000674.1:g.111348827del GRCh37
NC_000012.10:g.109833210del NCBI36
NG_007554.1:g.14555del , LRG_393:g.14555del

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.*54del MANE Select ENSP00000228841.8:n.*54del
ENST00000663220.1:c.*54del ENSP00000499568.1:n.*54del
ENST00000228841.12:c.*54del ENSP00000228841.7:n.*54del
ENST00000548438.1:c.*54del ENSP00000447154.1:n.*54del
NM_000432.3:c.*54del , LRG_393t1:c.*54del NP_000423.2:n.*54del
NM_000432.4:c.*54del MANE Select NP_000423.2:n.*54del
Search 100 bp 5'
Search 100 bp 3'