Canonical Allele Identifier: CA981429448

Linked Data

dbSNP Id: rs2073529597

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10539841T>C , CM000679.2:g.10539841T>C GRCh38
NC_000017.10:g.10443158T>C , CM000679.1:g.10443158T>C GRCh37
NC_000017.9:g.10383883T>C NCBI36
NG_013014.1:g.14860A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000245503.10:c.1147+87A>G (MYH2) MANE Select ENSP00000245503.5:n.1147+87A>G
ENST00000245503.9:c.1147+87A>G (MYH2) ENSP00000245503.5:n.1147+87A>G
ENST00000397183.6:c.1147+87A>G (MYH2) ENSP00000380367.2:n.1147+87A>G
ENST00000532183.6:c.1147+87A>G (MYH2) ENSP00000433944.1:n.1147+87A>G
ENST00000622564.4:c.1147+87A>G (MYH2) ENSP00000482463.1:n.1147+87A>G
NM_001100112.1:c.1147+87A>G (MYH2) NP_001093582.1:n.1147+87A>G
NM_017534.5:c.1147+87A>G (MYH2) NP_060004.3:n.1147+87A>G
NR_125367.1:n.168-27696T>C (MYHAS)
NM_017534.6:c.1147+87A>G (MYH2) MANE Select NP_060004.3:n.1147+87A>G
NM_001100112.2:c.1147+87A>G (MYH2) NP_001093582.1:n.1147+87A>G