Canonical Allele Identifier: CA2247222198

Linked Data

dbSNP Id: rs2072220319

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10409084A>G , CM000679.2:g.10409084A>G GRCh38
NC_000017.10:g.10312401A>G , CM000679.1:g.10312401A>G GRCh37
NC_000017.9:g.10253126A>G NCBI36
NG_013015.1:g.17867T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403437.2:c.1965+13T>C (MYH8) MANE Select ENSP00000384330.2:n.1965+13T>C
NM_002472.2:c.1965+13T>C (MYH8) NP_002463.2:n.1965+13T>C
NR_125367.1:n.167+2846A>G (MYHAS)
XM_011523873.1:c.1965+13T>C (MYH8) XP_011522175.1:n.1965+13T>C
XM_011523874.1:c.1965+13T>C (MYH8) XP_011522176.1:n.1965+13T>C
NM_002472.3:c.1965+13T>C (MYH8) MANE Select NP_002463.2:n.1965+13T>C