Canonical Allele Identifier: CA1394699

Gene: USH2A

Linked Data

• ClinVar Variation Id: 424935
• ClinVar RCV Id: RCV001274238 ; RCV000487605
• dbSNP Id: rs766443785
• ExAC: 1:216061963 C / T
• gnomAD v2: 1-216061963-C-T
• gnomAD v3: 1-215888621-C-T
• gnomAD v4: 1-215888621-C-T
• COSMIC: COSM3400306 ; COSM3400307
• MyVariant Identifiers: chr1:g.216061963C>T (hg19) ; chr1:g.215888621C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215888621C>T , CM000663.2:g.215888621C>T	GRCh38
NC_000001.10:g.216061963C>T , CM000663.1:g.216061963C>T	GRCh37
NC_000001.9:g.214128586C>T	NCBI36
NG_009497.1:g.539776G>A
NG_009497.2:g.539828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.8028G>A MANE Select	ENSP00000305941.3:p.Pro2676=
ENST00000674083.1:c.8028G>A	ENSP00000501296.1:p.Pro2676=
ENST00000307340.7:c.8028G>A	ENSP00000305941.3:p.Pro2676=
NM_206933.2:c.8028G>A	NP_996816.2:p.Pro2676=
NM_206933.3:c.8028G>A	NP_996816.2:p.Pro2676=
NM_206933.4:c.8028G>A MANE Select	NP_996816.3:p.Pro2676=