Canonical Allele Identifier: CA423319146

Gene: USH2A USH2A-AS1

Linked Data

• ClinVar Variation Id: 2037331
• ClinVar RCV Id: RCV002882181
• dbSNP Id: rs1166439948
• gnomAD v3: 1-216207283-T-C
• gnomAD v4: 1-216207283-T-C
• MyVariant Identifiers: chr1:g.216380625T>C (hg19) ; chr1:g.216207283T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216207283T>C , CM000663.2:g.216207283T>C	GRCh38
NC_000001.10:g.216380625T>C , CM000663.1:g.216380625T>C	GRCh37
NC_000001.9:g.214447248T>C	NCBI36
NG_009497.1:g.221114A>G
NG_009497.2:g.221166A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.3306A>G (USH2A) MANE Select	ENSP00000305941.3:p.Gln1102=
ENST00000674083.1:c.3306A>G (USH2A)	ENSP00000501296.1:p.Gln1102=
ENST00000307340.7:c.3306A>G (USH2A)	ENSP00000305941.3:p.Gln1102=
ENST00000366942.3:c.3306A>G (USH2A)	ENSP00000355909.3:p.Gln1102=
NM_007123.5:c.3306A>G (USH2A)	NP_009054.5:p.Gln1102=
NM_206933.2:c.3306A>G (USH2A)	NP_996816.2:p.Gln1102=
XR_922596.1:n.354+11358T>C (USH2A-AS1)
XR_922597.1:n.354+11358T>C (USH2A-AS1)
XR_922596.3:n.1076+11358T>C (USH2A-AS1)
NM_206933.3:c.3306A>G (USH2A)	NP_996816.2:p.Gln1102=
NM_007123.6:c.3306A>G (USH2A)	NP_009054.6:p.Gln1102=
NM_206933.4:c.3306A>G (USH2A) MANE Select	NP_996816.3:p.Gln1102=