Canonical Allele Identifier: CA510174041
Gene: MYLK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.30408011G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820208G>C , CM000682.2:g.31820208G>C GRCh38
NC_000020.10:g.30408011G>C , CM000682.1:g.30408011G>C GRCh37
NC_000020.9:g.29871672G>C NCBI36
NG_012847.1:g.5834G>C , LRG_392:g.5834G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.135G>C MANE Select ENSP00000365152.4:p.Pro45=
ENST00000375985.4:c.135G>C ENSP00000365152.4:p.Pro45=
ENST00000375994.6:c.135G>C ENSP00000365162.2:p.Pro45=
NM_033118.3:c.135G>C , LRG_392t1:c.135G>C NP_149109.1:p.Pro45=
XR_244155.1:n.300G>C
NM_033118.4:c.135G>C MANE Select NP_149109.1:p.Pro45=