Canonical Allele Identifier: CA1394432

Gene: USH2A

Linked Data

• ClinVar Variation Id: 287051
• ClinVar RCV Id: RCV001276963 ; RCV002519276 ; RCV000281270
• dbSNP Id: rs149813671
• ExAC: 1:216019184 C / T
• gnomAD v2: 1-216019184-C-T
• gnomAD v3: 1-215845842-C-T
• gnomAD v4: 1-215845842-C-T
• MyVariant Identifiers: chr1:g.216019184C>T (hg19) ; chr1:g.215845842C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215845842C>T , CM000663.2:g.215845842C>T	GRCh38
NC_000001.10:g.216019184C>T , CM000663.1:g.216019184C>T	GRCh37
NC_000001.9:g.214085807C>T	NCBI36
NG_009497.1:g.582555G>A
NG_009497.2:g.582607G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9037G>A MANE Select	ENSP00000305941.3:p.Ala3013Thr
ENST00000674083.1:c.9037G>A	ENSP00000501296.1:p.Ala3013Thr
ENST00000307340.7:c.9037G>A	ENSP00000305941.3:p.Ala3013Thr
NM_206933.2:c.9037G>A	NP_996816.2:p.Ala3013Thr
NM_206933.3:c.9037G>A	NP_996816.2:p.Ala3013Thr
NM_206933.4:c.9037G>A MANE Select	NP_996816.3:p.Ala3013Thr