Canonical Allele Identifier: CA8390487

Gene: MYH2 MYHAS

Linked Data

• ClinVar Variation Id: 445951
• ClinVar RCV Id: RCV000513939 ; RCV000764101
• dbSNP Id: rs147813930
• ExAC: 17:10427836 C / T
• gnomAD v2: 17-10427836-C-T
• gnomAD v3: 17-10524519-C-T
• gnomAD v4: 17-10524519-C-T
• COSMIC: COSM2151869
• MyVariant Identifiers: chr17:g.10427836C>T (hg19) ; chr17:g.10524519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10524519C>T , CM000679.2:g.10524519C>T	GRCh38
NC_000017.10:g.10427836C>T , CM000679.1:g.10427836C>T	GRCh37
NC_000017.9:g.10368561C>T	NCBI36
NG_013014.1:g.30182G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245503.10:c.5122G>A (MYH2) MANE Select	ENSP00000245503.5:p.Ala1708Thr
ENST00000245503.9:c.5122G>A (MYH2)	ENSP00000245503.5:p.Ala1708Thr
ENST00000397183.6:c.5122G>A (MYH2)	ENSP00000380367.2:p.Ala1708Thr
ENST00000532183.6:c.1975-3087G>A (MYH2)	ENSP00000433944.1:n.1975-3087G>A
ENST00000622564.4:c.1975-3087G>A (MYH2)	ENSP00000482463.1:n.1975-3087G>A
NM_001100112.1:c.5122G>A (MYH2)	NP_001093582.1:p.Ala1708Thr
NM_017534.5:c.5122G>A (MYH2)	NP_060004.3:p.Ala1708Thr
NR_125367.1:n.168-43018C>T (MYHAS)
NM_017534.6:c.5122G>A (MYH2) MANE Select	NP_060004.3:p.Ala1708Thr
NM_001100112.2:c.5122G>A (MYH2)	NP_001093582.1:p.Ala1708Thr