Canonical Allele Identifier: CA313849427
Gene: MYLK2 HGNC NCBI

Linked Data

dbSNP Id: rs980958977
gnomAD v4: 20-31820134-C-T
MyVariant Identifiers: chr20:g.30407937C>T (hg19) chr20:g.31820134C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.31820134C>T , CM000682.2:g.31820134C>T GRCh38
NC_000020.10:g.30407937C>T , CM000682.1:g.30407937C>T GRCh37
NC_000020.9:g.29871598C>T NCBI36
NG_012847.1:g.5760C>T , LRG_392:g.5760C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375985.5:c.61C>T MANE Select ENSP00000365152.4:p.Pro21Ser
ENST00000375985.4:c.61C>T ENSP00000365152.4:p.Pro21Ser
ENST00000375994.6:c.61C>T ENSP00000365162.2:p.Pro21Ser
NM_033118.3:c.61C>T , LRG_392t1:c.61C>T NP_149109.1:p.Pro21Ser
XR_244155.1:n.226C>T
NM_033118.4:c.61C>T MANE Select NP_149109.1:p.Pro21Ser
Search 100 bp 5'
Search 100 bp 3'