Canonical Allele Identifier: CA1393021

Gene: USH2A

Linked Data

• ClinVar Variation Id: 438016
• ClinVar RCV Id: RCV000504707 ; RCV000674502 ; RCV000657876 ; RCV003464079
• dbSNP Id: rs770553471
• ExAC: 1:215822026 G / A
• gnomAD v2: 1-215822026-G-A
• gnomAD v3: 1-215648684-G-A
• gnomAD v4: 1-215648684-G-A
• MyVariant Identifiers: chr1:g.215822026G>A (hg19) ; chr1:g.215648684G>A (hg38)
• PubMed: PMID:18665195 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215648684G>A , CM000663.2:g.215648684G>A	GRCh38
NC_000001.10:g.215822026G>A , CM000663.1:g.215822026G>A	GRCh37
NC_000001.9:g.213888649G>A	NCBI36
NG_009497.1:g.779713C>T
NG_009497.2:g.779765C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14426C>T MANE Select	ENSP00000305941.3:p.Thr4809Ile
ENST00000674083.1:c.14426C>T	ENSP00000501296.1:p.Thr4809Ile
ENST00000307340.7:c.14426C>T	ENSP00000305941.3:p.Thr4809Ile
NM_206933.2:c.14426C>T	NP_996816.2:p.Thr4809Ile
NM_206933.3:c.14426C>T	NP_996816.2:p.Thr4809Ile
NM_206933.4:c.14426C>T MANE Select	NP_996816.3:p.Thr4809Ile