Canonical Allele Identifier: CA344863986

Gene: USH2A

Linked Data

• ClinVar Variation Id: 504388
• ClinVar RCV Id: RCV000599015 ; RCV000605844 ; RCV003446171
• dbSNP Id: rs1553320397
• MyVariant Identifiers: chr1:g.216419925A>T (hg19) ; chr1:g.216246583A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216246583A>T , CM000663.2:g.216246583A>T	GRCh38
NC_000001.10:g.216419925A>T , CM000663.1:g.216419925A>T	GRCh37
NC_000001.9:g.214486548A>T	NCBI36
NG_009497.1:g.181814T>A
NG_009497.2:g.181866T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2809+2T>A MANE Select	ENSP00000305941.3:n.2809+2T>A
ENST00000674083.1:c.2809+2T>A	ENSP00000501296.1:n.2809+2T>A
ENST00000307340.7:c.2809+2T>A	ENSP00000305941.3:n.2809+2T>A
ENST00000366942.3:c.2809+2T>A	ENSP00000355909.3:n.2809+2T>A
NM_007123.5:c.2809+2T>A	NP_009054.5:n.2809+2T>A
NM_206933.2:c.2809+2T>A	NP_996816.2:n.2809+2T>A
NM_206933.3:c.2809+2T>A	NP_996816.2:n.2809+2T>A
NM_007123.6:c.2809+2T>A	NP_009054.6:n.2809+2T>A
NM_206933.4:c.2809+2T>A MANE Select	NP_996816.3:n.2809+2T>A