Canonical Allele Identifier: CA1394674

Gene: USH2A

Linked Data

• ClinVar Variation Id: 419282
• ClinVar RCV Id: RCV000485043 ; RCV000984317 ; RCV000984316
• dbSNP Id: rs200712760
• ExAC: 1:216061824 G / A
• gnomAD v2: 1-216061824-G-A
• gnomAD v3: 1-215888482-G-A
• gnomAD v4: 1-215888482-G-A
• MyVariant Identifiers: chr1:g.216061824G>A (hg19) ; chr1:g.215888482G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215888482G>A , CM000663.2:g.215888482G>A	GRCh38
NC_000001.10:g.216061824G>A , CM000663.1:g.216061824G>A	GRCh37
NC_000001.9:g.214128447G>A	NCBI36
NG_009497.1:g.539915C>T
NG_009497.2:g.539967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.8167C>T MANE Select	ENSP00000305941.3:p.Arg2723Ter
ENST00000674083.1:c.8167C>T	ENSP00000501296.1:p.Arg2723Ter
ENST00000307340.7:c.8167C>T	ENSP00000305941.3:p.Arg2723Ter
NM_206933.2:c.8167C>T	NP_996816.2:p.Arg2723Ter
NM_206933.3:c.8167C>T	NP_996816.2:p.Arg2723Ter
NM_206933.4:c.8167C>T MANE Select	NP_996816.3:p.Arg2723Ter