Canonical Allele Identifier: CA1394438

Gene: USH2A

Linked Data

• ClinVar Variation Id: 286068
• ClinVar RCV Id: RCV000265505 ; RCV001273708
• dbSNP Id: rs138574386
• ExAC: 1:216019213 A / G
• gnomAD v2: 1-216019213-A-G
• gnomAD v3: 1-215845871-A-G
• gnomAD v4: 1-215845871-A-G
• MyVariant Identifiers: chr1:g.216019213A>G (hg19) ; chr1:g.215845871A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215845871A>G , CM000663.2:g.215845871A>G	GRCh38
NC_000001.10:g.216019213A>G , CM000663.1:g.216019213A>G	GRCh37
NC_000001.9:g.214085836A>G	NCBI36
NG_009497.1:g.582526T>C
NG_009497.2:g.582578T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9008T>C MANE Select	ENSP00000305941.3:p.Val3003Ala
ENST00000674083.1:c.9008T>C	ENSP00000501296.1:p.Val3003Ala
ENST00000307340.7:c.9008T>C	ENSP00000305941.3:p.Val3003Ala
NM_206933.2:c.9008T>C	NP_996816.2:p.Val3003Ala
NM_206933.3:c.9008T>C	NP_996816.2:p.Val3003Ala
NM_206933.4:c.9008T>C MANE Select	NP_996816.3:p.Val3003Ala