Canonical Allele Identifier: CA635267879

Gene: MYLK2

Linked Data

• dbSNP Id: rs1470238055
• gnomAD v2: 20-30407835-T-G
• gnomAD v3: 20-31820032-T-G
• gnomAD v4: 20-31820032-T-G
• MyVariant Identifiers: chr20:g.30407835T>G (hg19) ; chr20:g.31820032T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.31820032T>G , CM000682.2:g.31820032T>G	GRCh38
NC_000020.10:g.30407835T>G , CM000682.1:g.30407835T>G	GRCh37
NC_000020.9:g.29871496T>G	NCBI36
NG_012847.1:g.5658T>G , LRG_392:g.5658T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375985.5:c.53-94T>G MANE Select	ENSP00000365152.4:n.53-94T>G
ENST00000375985.4:c.53-94T>G	ENSP00000365152.4:n.53-94T>G
ENST00000375994.6:c.53-94T>G	ENSP00000365162.2:n.53-94T>G
NM_033118.3:c.53-94T>G , LRG_392t1:c.53-94T>G	NP_149109.1:n.53-94T>G
XR_244155.1:n.218-94T>G
NM_033118.4:c.53-94T>G MANE Select	NP_149109.1:n.53-94T>G