Canonical Allele Identifier: CA1395708

Gene: USH2A

Linked Data

• ClinVar Variation Id: 295422
• ClinVar RCV Id: RCV000265612 ; RCV000378867 ; RCV000840094 ; RCV004021420
• dbSNP Id: rs200790812
• ExAC: 1:216348776 G / A
• gnomAD v2: 1-216348776-G-A
• gnomAD v3: 1-216175434-G-A
• gnomAD v4: 1-216175434-G-A
• MyVariant Identifiers: chr1:g.216348776G>A (hg19) ; chr1:g.216175434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216175434G>A , CM000663.2:g.216175434G>A	GRCh38
NC_000001.10:g.216348776G>A , CM000663.1:g.216348776G>A	GRCh37
NC_000001.9:g.214415399G>A	NCBI36
NG_009497.1:g.252963C>T
NG_009497.2:g.253015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4445C>T MANE Select	ENSP00000305941.3:p.Thr1482Ile
ENST00000674083.1:c.4445C>T	ENSP00000501296.1:p.Thr1482Ile
ENST00000307340.7:c.4445C>T	ENSP00000305941.3:p.Thr1482Ile
ENST00000366942.3:c.4445C>T	ENSP00000355909.3:p.Thr1482Ile
NM_007123.5:c.4445C>T	NP_009054.5:p.Thr1482Ile
NM_206933.2:c.4445C>T	NP_996816.2:p.Thr1482Ile
NM_206933.3:c.4445C>T	NP_996816.2:p.Thr1482Ile
NM_007123.6:c.4445C>T	NP_009054.6:p.Thr1482Ile
NM_206933.4:c.4445C>T MANE Select	NP_996816.3:p.Thr1482Ile