Canonical Allele Identifier: CA138534

Gene: MYLK2

Linked Data

• ClinVar Variation Id: 36652
• ClinVar RCV Id: RCV000030331 ; RCV000039788 ; RCV000205159 ; RCV003436924 ; RCV003964820
• dbSNP Id: rs34396614
• ExAC: 20:30408306 C / G
• gnomAD v2: 20-30408306-C-G
• gnomAD v3: 20-31820503-C-G
• gnomAD v4: 20-31820503-C-G
• MyVariant Identifiers: chr20:g.30408306C>G (hg19) ; chr20:g.31820503C>G (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.31820503C>G , CM000682.2:g.31820503C>G	GRCh38
NC_000020.10:g.30408306C>G , CM000682.1:g.30408306C>G	GRCh37
NC_000020.9:g.29871967C>G	NCBI36
NG_012847.1:g.6129C>G , LRG_392:g.6129C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375985.5:c.430C>G MANE Select	ENSP00000365152.4:p.Pro144Ala
ENST00000375985.4:c.430C>G	ENSP00000365152.4:p.Pro144Ala
ENST00000375994.6:c.430C>G	ENSP00000365162.2:p.Pro144Ala
NM_033118.3:c.430C>G , LRG_392t1:c.430C>G	NP_149109.1:p.Pro144Ala
XR_244155.1:n.595C>G
NM_033118.4:c.430C>G MANE Select	NP_149109.1:p.Pro144Ala