Canonical Allele Identifier: CA275369

Gene: USH2A

Linked Data

• ClinVar Variation Id: 198344
• ClinVar RCV Id: RCV000179630 ; RCV000504835 ; RCV000666708 ; RCV000724329 ; RCV001074360 ; RCV001449693 ; RCV003454469
• dbSNP Id: rs753330544
• gnomAD v2: 1-215847937-G-A
• gnomAD v3: 1-215674595-G-A
• gnomAD v4: 1-215674595-G-A
• MyVariant Identifiers: chr1:g.215847937G>A (hg19) ; chr1:g.215674595G>A (hg38)
• PubMed: PMID:18273898 ; PMID:23891399 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215674595G>A , CM000663.2:g.215674595G>A	GRCh38
NC_000001.10:g.215847937G>A , CM000663.1:g.215847937G>A	GRCh37
NC_000001.9:g.213914560G>A	NCBI36
NG_009497.1:g.753802C>T
NG_009497.2:g.753854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13316C>T MANE Select	ENSP00000305941.3:p.Thr4439Ile
ENST00000674083.1:c.13316C>T	ENSP00000501296.1:p.Thr4439Ile
ENST00000307340.7:c.13316C>T	ENSP00000305941.3:p.Thr4439Ile
NM_206933.2:c.13316C>T	NP_996816.2:p.Thr4439Ile
NM_206933.3:c.13316C>T	NP_996816.2:p.Thr4439Ile
NM_206933.4:c.13316C>T MANE Select	NP_996816.3:p.Thr4439Ile