Canonical Allele Identifier: CA262105

Gene: USH2A USH2A-AS2

Linked Data

• ClinVar Variation Id: 48535
• ClinVar RCV Id: RCV000041861 ; RCV000667951 ; RCV001074044 ; RCV000710326 ; RCV001214945 ; RCV004537153 ; RCV003460552
• dbSNP Id: rs375668376
• ExAC: 1:216246634 C / T
• gnomAD v2: 1-216246634-C-T
• gnomAD v3: 1-216073292-C-T
• gnomAD v4: 1-216073292-C-T
• MyVariant Identifiers: chr1:g.216246634C>T (hg19) ; chr1:g.216073292C>T (hg38)
• ERepo: CA262105/MONDO:0019501/005

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216073292C>T , CM000663.2:g.216073292C>T	GRCh38
NC_000001.10:g.216246634C>T , CM000663.1:g.216246634C>T	GRCh37
NC_000001.9:g.214313257C>T	NCBI36
NG_009497.1:g.355105G>A
NG_009497.2:g.355157G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5581G>A (USH2A) MANE Select	ENSP00000305941.3:p.Gly1861Ser
ENST00000674083.1:c.5581G>A (USH2A)	ENSP00000501296.1:p.Gly1861Ser
ENST00000307340.7:c.5581G>A (USH2A)	ENSP00000305941.3:p.Gly1861Ser
NM_206933.2:c.5581G>A (USH2A)	NP_996816.2:p.Gly1861Ser
NR_125992.1:n.136+692C>T (USH2A-AS2)
NR_125993.1:n.136+692C>T (USH2A-AS2)
NM_206933.3:c.5581G>A (USH2A)	NP_996816.2:p.Gly1861Ser
NM_206933.4:c.5581G>A (USH2A) MANE Select	NP_996816.3:p.Gly1861Ser