Canonical Allele Identifier: CA262122

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48604
• ClinVar RCV Id: RCV000041930 ; RCV000132715 ; RCV000592589 ; RCV000665497 ; RCV000710341 ; RCV000824785 ; RCV001075171 ; RCV003460553
• dbSNP Id: rs397518039
• ExAC: 1:216051224 T / C
• gnomAD v2: 1-216051224-T-C
• gnomAD v3: 1-215877882-T-C
• gnomAD v4: 1-215877882-T-C
• MyVariant Identifiers: chr1:g.216051224T>C (hg19) ; chr1:g.215877882T>C (hg38)
• PubMed: PMID:19023448 ; PMID:19737284 ; PMID:20596040 ; PMID:23891399
• ERepo: CA262122/MONDO:0019501/005

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215877882T>C , CM000663.2:g.215877882T>C	GRCh38
NC_000001.10:g.216051224T>C , CM000663.1:g.216051224T>C	GRCh37
NC_000001.9:g.214117847T>C	NCBI36
NG_009497.1:g.550515A>G
NG_009497.2:g.550567A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.8559-2A>G MANE Select	ENSP00000305941.3:n.8559-2A>G
ENST00000674083.1:c.8559-2A>G	ENSP00000501296.1:n.8559-2A>G
ENST00000307340.7:c.8559-2A>G	ENSP00000305941.3:n.8559-2A>G
NM_206933.2:c.8559-2A>G	NP_996816.2:n.8559-2A>G
NM_206933.3:c.8559-2A>G	NP_996816.2:n.8559-2A>G
NM_206933.4:c.8559-2A>G MANE Select	NP_996816.3:n.8559-2A>G