Canonical Allele Identifier: CA2816132782
Gene: MYLK2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820081A>C , CM000682.2:g.31820081A>C GRCh38
NC_000020.10:g.30407884A>C , CM000682.1:g.30407884A>C GRCh37
NC_000020.9:g.29871545A>C NCBI36
NG_012847.1:g.5707A>C , LRG_392:g.5707A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.53-45A>C MANE Select ENSP00000365152.4:n.53-45A>C
ENST00000375985.4:c.53-45A>C ENSP00000365152.4:n.53-45A>C
ENST00000375994.6:c.53-45A>C ENSP00000365162.2:n.53-45A>C
NM_033118.3:c.53-45A>C , LRG_392t1:c.53-45A>C NP_149109.1:n.53-45A>C
XR_244155.1:n.218-45A>C
NM_033118.4:c.53-45A>C MANE Select NP_149109.1:n.53-45A>C
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