Canonical Allele Identifier: CA143366

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48445
• ClinVar RCV Id: RCV000041768 ; RCV000725431 ; RCV001272930
• dbSNP Id: rs111033525
• ExAC: 1:215820991 C / T
• gnomAD v2: 1-215820991-C-T
• gnomAD v3: 1-215647649-C-T
• gnomAD v4: 1-215647649-C-T
• MyVariant Identifiers: chr1:g.215820991C>T (hg19) ; chr1:g.215647649C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215647649C>T , CM000663.2:g.215647649C>T	GRCh38
NC_000001.10:g.215820991C>T , CM000663.1:g.215820991C>T	GRCh37
NC_000001.9:g.213887614C>T	NCBI36
NG_009497.1:g.780748G>A
NG_009497.2:g.780800G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14664G>A MANE Select	ENSP00000305941.3:p.Thr4888=
ENST00000674083.1:c.14664G>A	ENSP00000501296.1:p.Thr4888=
ENST00000307340.7:c.14664G>A	ENSP00000305941.3:p.Thr4888=
NM_206933.2:c.14664G>A	NP_996816.2:p.Thr4888=
NM_206933.3:c.14664G>A	NP_996816.2:p.Thr4888=
NM_206933.4:c.14664G>A MANE Select	NP_996816.3:p.Thr4888=