Canonical Allele Identifier: CA2247222201

Linked Data

dbSNP Id: rs1597402614

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10409091C>T , CM000679.2:g.10409091C>T GRCh38
NC_000017.10:g.10312408C>T , CM000679.1:g.10312408C>T GRCh37
NC_000017.9:g.10253133C>T NCBI36
NG_013015.1:g.17860G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403437.2:c.1965+6G>A (MYH8) MANE Select ENSP00000384330.2:n.1965+6G>A
NM_002472.2:c.1965+6G>A (MYH8) NP_002463.2:n.1965+6G>A
NR_125367.1:n.167+2853C>T (MYHAS)
XM_011523873.1:c.1965+6G>A (MYH8) XP_011522175.1:n.1965+6G>A
XM_011523874.1:c.1965+6G>A (MYH8) XP_011522176.1:n.1965+6G>A
NM_002472.3:c.1965+6G>A (MYH8) MANE Select NP_002463.2:n.1965+6G>A