Canonical Allele Identifier: CA143340

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48431
• ClinVar RCV Id: RCV000041754 ; RCV000296291 ; RCV000349320 ; RCV001515003 ; RCV003887894
• dbSNP Id: rs1805050
• ExAC: 1:216496947 G / A
• gnomAD v2: 1-216496947-G-A
• gnomAD v3: 1-216323605-G-A
• gnomAD v4: 1-216323605-G-A
• MyVariant Identifiers: chr1:g.216496947G>A (hg19) ; chr1:g.216323605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216323605G>A , CM000663.2:g.216323605G>A	GRCh38
NC_000001.10:g.216496947G>A , CM000663.1:g.216496947G>A	GRCh37
NC_000001.9:g.214563570G>A	NCBI36
NG_009497.1:g.104792C>T
NG_009497.2:g.104844C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1419C>T MANE Select	ENSP00000305941.3:p.Thr473=
ENST00000674083.1:c.1419C>T	ENSP00000501296.1:p.Thr473=
ENST00000307340.7:c.1419C>T	ENSP00000305941.3:p.Thr473=
ENST00000366942.3:c.1419C>T	ENSP00000355909.3:p.Thr473=
NM_007123.5:c.1419C>T	NP_009054.5:p.Thr473=
NM_206933.2:c.1419C>T	NP_996816.2:p.Thr473=
NM_206933.3:c.1419C>T	NP_996816.2:p.Thr473=
NM_007123.6:c.1419C>T	NP_009054.6:p.Thr473=
NM_206933.4:c.1419C>T MANE Select	NP_996816.3:p.Thr473=