Canonical Allele Identifier: CA344844828

Gene: USH2A

Linked Data

• ClinVar Variation Id: 438038
• ClinVar RCV Id: RCV000505042 ; RCV000670590 ; RCV001062508 ; RCV003449431 ; RCV003449432
• dbSNP Id: rs1288381992
• gnomAD v4: 1-215790265-G-A
• MyVariant Identifiers: chr1:g.215963607G>A (hg19) ; chr1:g.215790265G>A (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215790265G>A , CM000663.2:g.215790265G>A	GRCh38
NC_000001.10:g.215963607G>A , CM000663.1:g.215963607G>A	GRCh37
NC_000001.9:g.214030230G>A	NCBI36
NG_009497.1:g.638132C>T
NG_009497.2:g.638184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9976C>T MANE Select	ENSP00000305941.3:p.Gln3326Ter
ENST00000674083.1:c.9976C>T	ENSP00000501296.1:p.Gln3326Ter
ENST00000307340.7:c.9976C>T	ENSP00000305941.3:p.Gln3326Ter
NM_206933.2:c.9976C>T	NP_996816.2:p.Gln3326Ter
NM_206933.3:c.9976C>T	NP_996816.2:p.Gln3326Ter
NM_206933.4:c.9976C>T MANE Select	NP_996816.3:p.Gln3326Ter