Canonical Allele Identifier: CA1393958

Gene: USH2A

Linked Data

• ClinVar Variation Id: 430065
• ClinVar RCV Id: RCV000494028 ; RCV003449387 ; RCV003464064
• dbSNP Id: rs749702843
• ExAC: 1:215955440 C / A
• gnomAD v2: 1-215955440-C-A
• gnomAD v4: 1-215782098-C-A
• MyVariant Identifiers: chr1:g.215955440C>A (hg19) ; chr1:g.215782098C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782098C>A , CM000663.2:g.215782098C>A	GRCh38
NC_000001.10:g.215955440C>A , CM000663.1:g.215955440C>A	GRCh37
NC_000001.9:g.214022063C>A	NCBI36
NG_009497.1:g.646299G>T
NG_009497.2:g.646351G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10684G>T MANE Select	ENSP00000305941.3:p.Glu3562Ter
ENST00000674083.1:c.10684G>T	ENSP00000501296.1:p.Glu3562Ter
ENST00000307340.7:c.10684G>T	ENSP00000305941.3:p.Glu3562Ter
NM_206933.2:c.10684G>T	NP_996816.2:p.Glu3562Ter
NM_206933.3:c.10684G>T	NP_996816.2:p.Glu3562Ter
NM_206933.4:c.10684G>T MANE Select	NP_996816.3:p.Glu3562Ter