Canonical Allele Identifier: CA2733006456

Gene: MYH2 MYHAS

Linked Data

• dbSNP Id: rs2142313877

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10539871_10539872insCCCGGGTCTCTCCACCTGCCACAGCACGCC , CM000679.2:g.10539871_10539872insCCCGGGTCTCTCCACCTGCCACAGCACGCC	GRCh38
NC_000017.10:g.10443188_10443189insCCCGGGTCTCTCCACCTGCCACAGCACGCC , CM000679.1:g.10443188_10443189insCCCGGGTCTCTCCACCTGCCACAGCACGCC	GRCh37
NC_000017.9:g.10383913_10383914insCCCGGGTCTCTCCACCTGCCACAGCACGCC	NCBI36
NG_013014.1:g.14829_14830insGGCGTGCTGTGGCAGGTGGAGAGACCCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245503.10:c.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAGACCCGGG (MYH2) MANE Select	ENSP00000245503.5:n.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAG...
ENST00000245503.9:c.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAGACCCGGG (MYH2)	ENSP00000245503.5:n.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAG...
ENST00000397183.6:c.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAGACCCGGG (MYH2)	ENSP00000380367.2:n.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAG...
ENST00000532183.6:c.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAGACCCGGG (MYH2)	ENSP00000433944.1:n.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAG...
ENST00000622564.4:c.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAGACCCGGG (MYH2)	ENSP00000482463.1:n.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAG...
NM_001100112.1:c.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAGACCCGGG (MYH2)	NP_001093582.1:n.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAGACC...
NM_017534.5:c.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAGACCCGGG (MYH2)	NP_060004.3:n.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAGACCCGG...
NR_125367.1:n.168-27666_168-27665insCCCGGGTCTCTCCACCTGCCACAGCACGCC (MYHAS)
NM_017534.6:c.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAGACCCGGG (MYH2) MANE Select	NP_060004.3:n.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAGACCCGG...
NM_001100112.2:c.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAGACCCGGG (MYH2)	NP_001093582.1:n.1147+56_1147+57insGGCGTGCTGTGGCAGGTGGAGAGACC...