Canonical Allele Identifier: CA313849339

Gene: MYLK2

Linked Data

• dbSNP Id: rs1016185232
• MyVariant Identifiers: chr20:g.30407841C>T (hg19) ; chr20:g.31820038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.31820038C>T , CM000682.2:g.31820038C>T	GRCh38
NC_000020.10:g.30407841C>T , CM000682.1:g.30407841C>T	GRCh37
NC_000020.9:g.29871502C>T	NCBI36
NG_012847.1:g.5664C>T , LRG_392:g.5664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375985.5:c.53-88C>T MANE Select	ENSP00000365152.4:n.53-88C>T
ENST00000375985.4:c.53-88C>T	ENSP00000365152.4:n.53-88C>T
ENST00000375994.6:c.53-88C>T	ENSP00000365162.2:n.53-88C>T
NM_033118.3:c.53-88C>T , LRG_392t1:c.53-88C>T	NP_149109.1:n.53-88C>T
XR_244155.1:n.218-88C>T
NM_033118.4:c.53-88C>T MANE Select	NP_149109.1:n.53-88C>T