Canonical Allele Identifier: CA344836263

Gene: USH2A

Linked Data

• ClinVar Variation Id: 2734079
• ClinVar RCV Id: RCV003554889
• MyVariant Identifiers: chr1:g.215955415C>A (hg19) ; chr1:g.215782073C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782073C>A , CM000663.2:g.215782073C>A	GRCh38
NC_000001.10:g.215955415C>A , CM000663.1:g.215955415C>A	GRCh37
NC_000001.9:g.214022038C>A	NCBI36
NG_009497.1:g.646324G>T
NG_009497.2:g.646376G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10709G>T MANE Select	ENSP00000305941.3:p.Cys3570Phe
ENST00000674083.1:c.10709G>T	ENSP00000501296.1:p.Cys3570Phe
ENST00000307340.7:c.10709G>T	ENSP00000305941.3:p.Cys3570Phe
NM_206933.2:c.10709G>T	NP_996816.2:p.Cys3570Phe
NM_206933.3:c.10709G>T	NP_996816.2:p.Cys3570Phe
NM_206933.4:c.10709G>T MANE Select	NP_996816.3:p.Cys3570Phe