Canonical Allele Identifier: CA2636119631
Gene: MYH2 HGNC NCBI
MYHAS HGNC NCBI

Linked Data

gnomAD v4: 17-10539865-G-GTAACAAGGAATTCT
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10539872_10539873insGAATTCTTAACAAG , CM000679.2:g.10539872_10539873insGAATTCTTAACAAG GRCh38
NC_000017.10:g.10443189_10443190insGAATTCTTAACAAG , CM000679.1:g.10443189_10443190insGAATTCTTAACAAG GRCh37
NC_000017.9:g.10383914_10383915insGAATTCTTAACAAG NCBI36
NG_013014.1:g.14835_14836insAGAATTCCTTGTTA

Transcript Alleles

HGVS Amino-acid change
ENST00000245503.10:c.1147+62_1147+63insAGAATTCCTTGTTA (MYH2) MANE Select ENSP00000245503.5:n.1147+62_1147+63insAGA...
ENST00000245503.9:c.1147+62_1147+63insAGAATTCCTTGTTA (MYH2) ENSP00000245503.5:n.1147+62_1147+63insAGA...
ENST00000397183.6:c.1147+62_1147+63insAGAATTCCTTGTTA (MYH2) ENSP00000380367.2:n.1147+62_1147+63insAGA...
ENST00000532183.6:c.1147+62_1147+63insAGAATTCCTTGTTA (MYH2) ENSP00000433944.1:n.1147+62_1147+63insAGA...
ENST00000622564.4:c.1147+62_1147+63insAGAATTCCTTGTTA (MYH2) ENSP00000482463.1:n.1147+62_1147+63insAGA...
NM_001100112.1:c.1147+62_1147+63insAGAATTCCTTGTTA (MYH2) NP_001093582.1:n.1147+62_1147+63insAGAATT...
NM_017534.5:c.1147+62_1147+63insAGAATTCCTTGTTA (MYH2) NP_060004.3:n.1147+62_1147+63insAGAATTCCT...
NR_125367.1:n.168-27665_168-27664insGAATTCTTAACAAG (MYHAS)
NM_017534.6:c.1147+62_1147+63insAGAATTCCTTGTTA (MYH2) MANE Select NP_060004.3:n.1147+62_1147+63insAGAATTCCT...
NM_001100112.2:c.1147+62_1147+63insAGAATTCCTTGTTA (MYH2) NP_001093582.1:n.1147+62_1147+63insAGAATT...
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