Canonical Allele Identifier: CA042563
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237782
ClinVar RCV Id: RCV000228499 RCV001175834 RCV004532840
dbSNP Id: rs749765328
ExAC: 12:111350894 C / G
gnomAD v2: 12-111350894-C-G
gnomAD v3: 12-110913090-C-G
gnomAD v4: 12-110913090-C-G
MyVariant Identifiers: chr12:g.111350894C>G (hg19) chr12:g.110913090C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110913090C>G , CM000674.2:g.110913090C>G GRCh38
NC_000012.11:g.111350894C>G , CM000674.1:g.111350894C>G GRCh37
NC_000012.10:g.109835277C>G NCBI36
NG_007554.1:g.12488G>C , LRG_393:g.12488G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.402+6G>C MANE Select ENSP00000228841.8:n.402+6G>C
ENST00000663220.1:c.345+6G>C ENSP00000499568.1:n.345+6G>C
ENST00000228841.12:c.402+6G>C ENSP00000228841.7:n.402+6G>C
ENST00000548438.1:c.360+6G>C ENSP00000447154.1:n.360+6G>C
NM_000432.3:c.402+6G>C , LRG_393t1:c.402+6G>C NP_000423.2:n.402+6G>C
NM_000432.4:c.402+6G>C MANE Select NP_000423.2:n.402+6G>C
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