Canonical Allele Identifier: CA313849317

Gene: MYLK2

Linked Data

• dbSNP Id: rs1018348885
• gnomAD v2: 20-30407778-G-C
• gnomAD v3: 20-31819975-G-C
• gnomAD v4: 20-31819975-G-C
• MyVariant Identifiers: chr20:g.30407778G>C (hg19) ; chr20:g.31819975G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.31819975G>C , CM000682.2:g.31819975G>C	GRCh38
NC_000020.10:g.30407778G>C , CM000682.1:g.30407778G>C	GRCh37
NC_000020.9:g.29871439G>C	NCBI36
NG_012847.1:g.5601G>C , LRG_392:g.5601G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375985.5:c.53-151G>C MANE Select	ENSP00000365152.4:n.53-151G>C
ENST00000375985.4:c.53-151G>C	ENSP00000365152.4:n.53-151G>C
ENST00000375994.6:c.53-151G>C	ENSP00000365162.2:n.53-151G>C
NM_033118.3:c.53-151G>C , LRG_392t1:c.53-151G>C	NP_149109.1:n.53-151G>C
XR_244155.1:n.218-151G>C
NM_033118.4:c.53-151G>C MANE Select	NP_149109.1:n.53-151G>C