Canonical Allele Identifier: CA143623

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48598
• ClinVar RCV Id: RCV000041924 ; RCV000490269 ; RCV000665134 ; RCV000937215 ; RCV001579280 ; RCV003888409
• dbSNP Id: rs143240767
• ExAC: 1:216052322 G / A
• gnomAD v2: 1-216052322-G-A
• gnomAD v3: 1-215878980-G-A
• gnomAD v4: 1-215878980-G-A
• MyVariant Identifiers: chr1:g.216052322G>A (hg19) ; chr1:g.215878980G>A (hg38)
• PubMed: PMID:23767834

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215878980G>A , CM000663.2:g.215878980G>A	GRCh38
NC_000001.10:g.216052322G>A , CM000663.1:g.216052322G>A	GRCh37
NC_000001.9:g.214118945G>A	NCBI36
NG_009497.1:g.549417C>T
NG_009497.2:g.549469C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.8342C>T MANE Select	ENSP00000305941.3:p.Thr2781Ile
ENST00000674083.1:c.8342C>T	ENSP00000501296.1:p.Thr2781Ile
ENST00000307340.7:c.8342C>T	ENSP00000305941.3:p.Thr2781Ile
NM_206933.2:c.8342C>T	NP_996816.2:p.Thr2781Ile
NM_206933.3:c.8342C>T	NP_996816.2:p.Thr2781Ile
NM_206933.4:c.8342C>T MANE Select	NP_996816.3:p.Thr2781Ile