Canonical Allele Identifier: CA143558

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48561
• ClinVar RCV Id: RCV000041887 ; RCV000664951 ; RCV002513604
• dbSNP Id: rs397518025
• gnomAD v2: 1-216172400-C-T
• gnomAD v4: 1-215999058-C-T
• MyVariant Identifiers: chr1:g.216172400C>T (hg19) ; chr1:g.215999058C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215999058C>T , CM000663.2:g.215999058C>T	GRCh38
NC_000001.10:g.216172400C>T , CM000663.1:g.216172400C>T	GRCh37
NC_000001.9:g.214239023C>T	NCBI36
NG_009497.1:g.429339G>A
NG_009497.2:g.429391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.6486G>A MANE Select	ENSP00000305941.3:p.Gln2162=
ENST00000674083.1:c.6486G>A	ENSP00000501296.1:p.Gln2162=
ENST00000307340.7:c.6486G>A	ENSP00000305941.3:p.Gln2162=
NM_206933.2:c.6486G>A	NP_996816.2:p.Gln2162=
NM_206933.3:c.6486G>A	NP_996816.2:p.Gln2162=
NM_206933.4:c.6486G>A MANE Select	NP_996816.3:p.Gln2162=