Canonical Allele Identifier: CA344815755

Gene: USH2A

Linked Data

• ClinVar Variation Id: 1717707
• ClinVar RCV Id: RCV002297732
• MyVariant Identifiers: chr1:g.215853496T>C (hg19) ; chr1:g.215680154T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215680154T>C , CM000663.2:g.215680154T>C	GRCh38
NC_000001.10:g.215853496T>C , CM000663.1:g.215853496T>C	GRCh37
NC_000001.9:g.213920119T>C	NCBI36
NG_009497.1:g.748243A>G
NG_009497.2:g.748295A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12289A>G MANE Select	ENSP00000305941.3:p.Ile4097Val
ENST00000674083.1:c.12289A>G	ENSP00000501296.1:p.Ile4097Val
ENST00000307340.7:c.12289A>G	ENSP00000305941.3:p.Ile4097Val
NM_206933.2:c.12289A>G	NP_996816.2:p.Ile4097Val
NM_206933.3:c.12289A>G	NP_996816.2:p.Ile4097Val
NM_206933.4:c.12289A>G MANE Select	NP_996816.3:p.Ile4097Val