Canonical Allele Identifier: CA2247307120

Gene: MYH2 MYHAS

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10539899_10539900delinsCA , CM000679.2:g.10539899_10539900delinsCA	GRCh38
NC_000017.10:g.10443216_10443217delinsCA , CM000679.1:g.10443216_10443217delinsCA	GRCh37
NC_000017.9:g.10383941_10383942delinsCA	NCBI36
NG_013014.1:g.14801_14802delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245503.10:c.1147+28_1147+29delinsTG (MYH2) MANE Select	ENSP00000245503.5:n.1147+28_1147+29delinsTG
ENST00000245503.9:c.1147+28_1147+29delinsTG (MYH2)	ENSP00000245503.5:n.1147+28_1147+29delinsTG
ENST00000397183.6:c.1147+28_1147+29delinsTG (MYH2)	ENSP00000380367.2:n.1147+28_1147+29delinsTG
ENST00000532183.6:c.1147+28_1147+29delinsTG (MYH2)	ENSP00000433944.1:n.1147+28_1147+29delinsTG
ENST00000622564.4:c.1147+28_1147+29delinsTG (MYH2)	ENSP00000482463.1:n.1147+28_1147+29delinsTG
NM_001100112.1:c.1147+28_1147+29delinsTG (MYH2)	NP_001093582.1:n.1147+28_1147+29delinsTG
NM_017534.5:c.1147+28_1147+29delinsTG (MYH2)	NP_060004.3:n.1147+28_1147+29delinsTG
NR_125367.1:n.168-27638_168-27637delinsCA (MYHAS)
NM_017534.6:c.1147+28_1147+29delinsTG (MYH2) MANE Select	NP_060004.3:n.1147+28_1147+29delinsTG
NM_001100112.2:c.1147+28_1147+29delinsTG (MYH2)	NP_001093582.1:n.1147+28_1147+29delinsTG