Canonical Allele Identifier: CA2247222183

Linked Data

dbSNP Id: rs1597402600

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10409056T>C , CM000679.2:g.10409056T>C GRCh38
NC_000017.10:g.10312373T>C , CM000679.1:g.10312373T>C GRCh37
NC_000017.9:g.10253098T>C NCBI36
NG_013015.1:g.17895A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000403437.2:c.1965+41A>G (MYH8) MANE Select ENSP00000384330.2:n.1965+41A>G
NM_002472.2:c.1965+41A>G (MYH8) NP_002463.2:n.1965+41A>G
NR_125367.1:n.167+2818T>C (MYHAS)
XM_011523873.1:c.1965+41A>G (MYH8) XP_011522175.1:n.1965+41A>G
XM_011523874.1:c.1965+41A>G (MYH8) XP_011522176.1:n.1965+41A>G
NM_002472.3:c.1965+41A>G (MYH8) MANE Select NP_002463.2:n.1965+41A>G