Canonical Allele Identifier: CA1395583

Gene: USH2A USH2A-AS2

Linked Data

• ClinVar Variation Id: 488733
• ClinVar RCV Id: RCV000578898 ; RCV000670513 ; RCV000787898 ; RCV000787731 ; RCV003465286 ; RCV003889925
• dbSNP Id: rs754768875
• ExAC: 1:216260091 G / A
• gnomAD v2: 1-216260091-G-A
• gnomAD v3: 1-216086749-G-A
• gnomAD v4: 1-216086749-G-A
• MyVariant Identifiers: chr1:g.216260091G>A (hg19) ; chr1:g.216086749G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216086749G>A , CM000663.2:g.216086749G>A	GRCh38
NC_000001.10:g.216260091G>A , CM000663.1:g.216260091G>A	GRCh37
NC_000001.9:g.214326714G>A	NCBI36
NG_009497.1:g.341648C>T
NG_009497.2:g.341700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4957C>T (USH2A) MANE Select	ENSP00000305941.3:p.Arg1653Ter
ENST00000674083.1:c.4957C>T (USH2A)	ENSP00000501296.1:p.Arg1653Ter
ENST00000307340.7:c.4957C>T (USH2A)	ENSP00000305941.3:p.Arg1653Ter
ENST00000481786.1:n.199C>T (USH2A)
NM_206933.2:c.4957C>T (USH2A)	NP_996816.2:p.Arg1653Ter
NR_125992.1:n.293G>A (USH2A-AS2)
NR_125993.1:n.164G>A (USH2A-AS2)
NM_206933.3:c.4957C>T (USH2A)	NP_996816.2:p.Arg1653Ter
NM_206933.4:c.4957C>T (USH2A) MANE Select	NP_996816.3:p.Arg1653Ter