Canonical Allele Identifier: CA262111

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48554
• ClinVar RCV Id: RCV000041880 ; RCV001042426 ; RCV001073793 ; RCV001826597 ; RCV003450867
• dbSNP Id: rs111033386
• gnomAD v2: 1-216219874-C-T
• gnomAD v3: 1-216046532-C-T
• gnomAD v4: 1-216046532-C-T
• MyVariant Identifiers: chr1:g.216219874C>T (hg19) ; chr1:g.216046532C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216046532C>T , CM000663.2:g.216046532C>T	GRCh38
NC_000001.10:g.216219874C>T , CM000663.1:g.216219874C>T	GRCh37
NC_000001.9:g.214286497C>T	NCBI36
NG_009497.1:g.381865G>A
NG_009497.2:g.381917G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.6224G>A MANE Select	ENSP00000305941.3:p.Trp2075Ter
ENST00000674083.1:c.6224G>A	ENSP00000501296.1:p.Trp2075Ter
ENST00000307340.7:c.6224G>A	ENSP00000305941.3:p.Trp2075Ter
NM_206933.2:c.6224G>A	NP_996816.2:p.Trp2075Ter
NM_206933.3:c.6224G>A	NP_996816.2:p.Trp2075Ter
NM_206933.4:c.6224G>A MANE Select	NP_996816.3:p.Trp2075Ter