Canonical Allele Identifier: CA2620916320
Gene: MYL2 HGNC NCBI

Linked Data

gnomAD v4: 12-110910916-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110910916T>C , CM000674.2:g.110910916T>C GRCh38
NC_000012.11:g.111348720T>C , CM000674.1:g.111348720T>C GRCh37
NC_000012.10:g.109833103T>C NCBI36
NG_007554.1:g.14662A>G , LRG_393:g.14662A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.*161A>G MANE Select ENSP00000228841.8:n.*161A>G
ENST00000663220.1:c.*161A>G ENSP00000499568.1:n.*161A>G
ENST00000228841.12:c.*161A>G ENSP00000228841.7:n.*161A>G
NM_000432.3:c.*161A>G , LRG_393t1:c.*161A>G NP_000423.2:n.*161A>G
NM_000432.4:c.*161A>G MANE Select NP_000423.2:n.*161A>G
Search 100 bp 5'
Search 100 bp 3'