Canonical Allele Identifier: CA180688

Gene: USH2A

Linked Data

• ClinVar Variation Id: 177745
• ClinVar RCV Id: RCV000154358 ; RCV000732182 ; RCV001273696 ; RCV004019848
• dbSNP Id: rs727504307
• ExAC: 1:215953298 C / A
• gnomAD v2: 1-215953298-C-A
• gnomAD v4: 1-215779956-C-A
• MyVariant Identifiers: chr1:g.215953298C>A (hg19) ; chr1:g.215779956C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779956C>A , CM000663.2:g.215779956C>A	GRCh38
NC_000001.10:g.215953298C>A , CM000663.1:g.215953298C>A	GRCh37
NC_000001.9:g.214019921C>A	NCBI36
NG_009497.1:g.648441G>T
NG_009497.2:g.648493G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10826G>T MANE Select	ENSP00000305941.3:p.Ser3609Ile
ENST00000674083.1:c.10826G>T	ENSP00000501296.1:p.Ser3609Ile
ENST00000307340.7:c.10826G>T	ENSP00000305941.3:p.Ser3609Ile
NM_206933.2:c.10826G>T	NP_996816.2:p.Ser3609Ile
NM_206933.3:c.10826G>T	NP_996816.2:p.Ser3609Ile
NM_206933.4:c.10826G>T MANE Select	NP_996816.3:p.Ser3609Ile