Canonical Allele Identifier: CA635267881

Gene: MYLK2

Linked Data

• dbSNP Id: rs1411255573
• gnomAD v2: 20-30407844-G-T
• gnomAD v3: 20-31820041-G-T
• gnomAD v4: 20-31820041-G-T
• MyVariant Identifiers: chr20:g.30407844G>T (hg19) ; chr20:g.31820041G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.31820041G>T , CM000682.2:g.31820041G>T	GRCh38
NC_000020.10:g.30407844G>T , CM000682.1:g.30407844G>T	GRCh37
NC_000020.9:g.29871505G>T	NCBI36
NG_012847.1:g.5667G>T , LRG_392:g.5667G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375985.5:c.53-85G>T MANE Select	ENSP00000365152.4:n.53-85G>T
ENST00000375985.4:c.53-85G>T	ENSP00000365152.4:n.53-85G>T
ENST00000375994.6:c.53-85G>T	ENSP00000365162.2:n.53-85G>T
NM_033118.3:c.53-85G>T , LRG_392t1:c.53-85G>T	NP_149109.1:n.53-85G>T
XR_244155.1:n.218-85G>T
NM_033118.4:c.53-85G>T MANE Select	NP_149109.1:n.53-85G>T