Canonical Allele Identifier: CA344836404

Gene: USH2A

Linked Data

• ClinVar Variation Id: 2202947
• ClinVar RCV Id: RCV002664208
• MyVariant Identifiers: chr1:g.215955435A>T (hg19) ; chr1:g.215782093A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782093A>T , CM000663.2:g.215782093A>T	GRCh38
NC_000001.10:g.215955435A>T , CM000663.1:g.215955435A>T	GRCh37
NC_000001.9:g.214022058A>T	NCBI36
NG_009497.1:g.646304T>A
NG_009497.2:g.646356T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.10689T>A MANE Select	ENSP00000305941.3:p.Tyr3563Ter
ENST00000674083.1:c.10689T>A	ENSP00000501296.1:p.Tyr3563Ter
ENST00000307340.7:c.10689T>A	ENSP00000305941.3:p.Tyr3563Ter
NM_206933.2:c.10689T>A	NP_996816.2:p.Tyr3563Ter
NM_206933.3:c.10689T>A	NP_996816.2:p.Tyr3563Ter
NM_206933.4:c.10689T>A MANE Select	NP_996816.3:p.Tyr3563Ter