Canonical Allele Identifier: CA1393701

Gene: USH2A

Linked Data

• ClinVar Variation Id: 281728
• ClinVar RCV Id: RCV000724948 ; RCV000387630 ; RCV001274939 ; RCV002518828 ; RCV001073259 ; RCV004535263
• dbSNP Id: rs142481947
• ExAC: 1:215916600 C / T
• gnomAD v2: 1-215916600-C-T
• gnomAD v3: 1-215743258-C-T
• gnomAD v4: 1-215743258-C-T
• MyVariant Identifiers: chr1:g.215916600C>T (hg19) ; chr1:g.215743258C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215743258C>T , CM000663.2:g.215743258C>T	GRCh38
NC_000001.10:g.215916600C>T , CM000663.1:g.215916600C>T	GRCh37
NC_000001.9:g.213983223C>T	NCBI36
NG_009497.1:g.685139G>A
NG_009497.2:g.685191G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11467G>A MANE Select	ENSP00000305941.3:p.Val3823Ile
ENST00000674083.1:c.11467G>A	ENSP00000501296.1:p.Val3823Ile
ENST00000307340.7:c.11467G>A	ENSP00000305941.3:p.Val3823Ile
NM_206933.2:c.11467G>A	NP_996816.2:p.Val3823Ile
NM_206933.3:c.11467G>A	NP_996816.2:p.Val3823Ile
NM_206933.4:c.11467G>A MANE Select	NP_996816.3:p.Val3823Ile