Canonical Allele Identifier: CA2316163
Gene: MYD88 HGNC NCBI

Linked Data

ClinVar Variation Id: 2795156
ClinVar RCV Id: RCV003618257
dbSNP Id: rs772678256
gnomAD v2: 3-38182002-G-A
gnomAD v4: 3-38140511-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38140511G>A , CM000665.2:g.38140511G>A GRCh38
NC_000003.11:g.38182002G>A , CM000665.1:g.38182002G>A GRCh37
NC_000003.10:g.38157006G>A NCBI36
NG_016964.1:g.7034G>A , LRG_157:g.7034G>A
NG_023225.1:g.1732C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000463956.2:n.374G>A
ENST00000484513.2:n.1877G>A
ENST00000699084.1:n.1488G>A
ENST00000699085.1:n.1452G>A
ENST00000699086.1:c.387G>A
ENST00000396334.8:c.587G>A ENSP00000379625.4:p.Arg196His
ENST00000416282.3:n.502G>A
ENST00000417037.8:c.452G>A ENSP00000401399.4:p.Arg151His
ENST00000421516.3:c.587G>A ENSP00000391753.3:p.Arg196His
ENST00000650112.2:c.329-246G>A ENSP00000497991.2:n.329-246G>A
ENST00000650905.2:c.587G>A MANE Select ENSP00000498360.2:p.Arg196His
ENST00000651800.2:c.464-246G>A ENSP00000499012.2:n.464-246G>A
ENST00000652213.1:c.587G>A ENSP00000498576.1:p.Arg196His
ENST00000652590.1:n.627G>A
ENST00000396334.7:c.626G>A ENSP00000379625.3:p.Arg209His
ENST00000416282.2:n.502G>A
ENST00000417037.6:c.626G>A ENSP00000401399.2:p.Arg209His
ENST00000421516.1:c.623G>A ENSP00000391753.1:p.Arg208His
ENST00000424893.5:c.491G>A ENSP00000389979.1:p.Arg164His
ENST00000443433.6:c.503-246G>A ENSP00000390565.2:n.503-246G>A
ENST00000460295.1:n.1020G>A
ENST00000463956.1:n.300G>A
ENST00000481122.5:n.380G>A
ENST00000484513.1:n.1089G>A
ENST00000495303.5:c.368-246G>A ENSP00000417848.1:n.368-246G>A
NM_001172566.1:c.368-246G>A NP_001166037.1:n.368-246G>A
NM_001172567.1:c.626G>A , LRG_157t1:c.626G>A NP_001166038.1:p.Arg209His
NM_001172568.1:c.491G>A NP_001166039.1:p.Arg164His
NM_001172569.1:c.503-246G>A NP_001166040.1:n.503-246G>A
NM_002468.4:c.626G>A NP_002459.2:p.Arg209His
XM_005265172.1:c.626G>A XP_005265229.1:p.Arg209His
XM_006713170.1:c.491G>A XP_006713233.1:p.Arg164His
NM_001172566.2:c.329-246G>A NP_001166037.2:n.329-246G>A
NM_001172567.2:c.587G>A NP_001166038.2:p.Arg196His
NM_001172568.2:c.452G>A NP_001166039.2:p.Arg151His
NM_001172569.2:c.464-246G>A NP_001166040.2:n.464-246G>A
NM_001365876.1:c.587G>A NP_001352805.1:p.Arg196His
NM_001365877.1:c.452G>A NP_001352806.1:p.Arg151His
NM_002468.5:c.587G>A MANE Select NP_002459.3:p.Arg196His
NM_001172569.3:c.464-246G>A NP_001166040.2:n.464-246G>A
NM_001374787.1:c.587G>A NP_001361716.1:p.Arg196His
NM_001374788.1:c.119G>A NP_001361717.1:p.Arg40His
NR_164663.1:n.289G>A