Canonical Allele Identifier: CA1395348

Gene: USH2A USH2A-AS2

Linked Data

• ClinVar Variation Id: 498857
• ClinVar RCV Id: RCV000598287 ; RCV001273047
• dbSNP Id: rs149776188
• ExAC: 1:216246286 C / T
• gnomAD v2: 1-216246286-C-T
• gnomAD v3: 1-216072944-C-T
• gnomAD v4: 1-216072944-C-T
• COSMIC: COSM903926
• MyVariant Identifiers: chr1:g.216246286C>T (hg19) ; chr1:g.216072944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216072944C>T , CM000663.2:g.216072944C>T	GRCh38
NC_000001.10:g.216246286C>T , CM000663.1:g.216246286C>T	GRCh37
NC_000001.9:g.214312909C>T	NCBI36
NG_009497.1:g.355453G>A
NG_009497.2:g.355505G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5802G>A (USH2A) MANE Select	ENSP00000305941.3:p.Ser1934=
ENST00000674083.1:c.5802G>A (USH2A)	ENSP00000501296.1:p.Ser1934=
ENST00000307340.7:c.5802G>A (USH2A)	ENSP00000305941.3:p.Ser1934=
NM_206933.2:c.5802G>A (USH2A)	NP_996816.2:p.Ser1934=
NR_125992.1:n.136+344C>T (USH2A-AS2)
NR_125993.1:n.136+344C>T (USH2A-AS2)
NM_206933.3:c.5802G>A (USH2A)	NP_996816.2:p.Ser1934=
NM_206933.4:c.5802G>A (USH2A) MANE Select	NP_996816.3:p.Ser1934=