Canonical Allele Identifier: CA179528

Gene: USH2A

Linked Data

• ClinVar Variation Id: 166465
• ClinVar RCV Id: RCV000152587 ; RCV001513499 ; RCV003445576 ; RCV003445577
• dbSNP Id: rs181894778
• ExAC: 1:216017621 A / G
• gnomAD v2: 1-216017621-A-G
• gnomAD v3: 1-215844279-A-G
• gnomAD v4: 1-215844279-A-G
• MyVariant Identifiers: chr1:g.216017621A>G (hg19) ; chr1:g.215844279A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215844279A>G , CM000663.2:g.215844279A>G	GRCh38
NC_000001.10:g.216017621A>G , CM000663.1:g.216017621A>G	GRCh37
NC_000001.9:g.214084244A>G	NCBI36
NG_009497.1:g.584118T>C
NG_009497.2:g.584170T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9258+15T>C MANE Select	ENSP00000305941.3:n.9258+15T>C
ENST00000674083.1:c.9258+15T>C	ENSP00000501296.1:n.9258+15T>C
ENST00000307340.7:c.9258+15T>C	ENSP00000305941.3:n.9258+15T>C
NM_206933.2:c.9258+15T>C	NP_996816.2:n.9258+15T>C
NM_206933.3:c.9258+15T>C	NP_996816.2:n.9258+15T>C
NM_206933.4:c.9258+15T>C MANE Select	NP_996816.3:n.9258+15T>C