Canonical Allele Identifier: CA1395103

Gene: USH2A

Linked Data

• ClinVar Variation Id: 228220
• ClinVar RCV Id: RCV000216840 ; RCV001271995 ; RCV004532749 ; RCV000667038 ; RCV001495426
• dbSNP Id: rs542406401
• ExAC: 1:216172321 T / C
• gnomAD v2: 1-216172321-T-C
• gnomAD v3: 1-215998979-T-C
• gnomAD v4: 1-215998979-T-C
• MyVariant Identifiers: chr1:g.216172321T>C (hg19) ; chr1:g.215998979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215998979T>C , CM000663.2:g.215998979T>C	GRCh38
NC_000001.10:g.216172321T>C , CM000663.1:g.216172321T>C	GRCh37
NC_000001.9:g.214238944T>C	NCBI36
NG_009497.1:g.429418A>G
NG_009497.2:g.429470A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.6565A>G MANE Select	ENSP00000305941.3:p.Ile2189Val
ENST00000674083.1:c.6565A>G	ENSP00000501296.1:p.Ile2189Val
ENST00000307340.7:c.6565A>G	ENSP00000305941.3:p.Ile2189Val
NM_206933.2:c.6565A>G	NP_996816.2:p.Ile2189Val
NM_206933.3:c.6565A>G	NP_996816.2:p.Ile2189Val
NM_206933.4:c.6565A>G MANE Select	NP_996816.3:p.Ile2189Val