Canonical Allele Identifier: CA1394963

Gene: USH2A

Linked Data

• ClinVar Variation Id: 228222
• ClinVar RCV Id: RCV000213559 ; RCV000725927 ; RCV001274245
• dbSNP Id: rs145718407
• ExAC: 1:216138741 G / A
• gnomAD v2: 1-216138741-G-A
• gnomAD v3: 1-215965399-G-A
• gnomAD v4: 1-215965399-G-A
• MyVariant Identifiers: chr1:g.216138741G>A (hg19) ; chr1:g.215965399G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215965399G>A , CM000663.2:g.215965399G>A	GRCh38
NC_000001.10:g.216138741G>A , CM000663.1:g.216138741G>A	GRCh37
NC_000001.9:g.214205364G>A	NCBI36
NG_009497.1:g.462998C>T
NG_009497.2:g.463050C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7038C>T MANE Select	ENSP00000305941.3:p.His2346=
ENST00000674083.1:c.7038C>T	ENSP00000501296.1:p.His2346=
ENST00000307340.7:c.7038C>T	ENSP00000305941.3:p.His2346=
NM_206933.2:c.7038C>T	NP_996816.2:p.His2346=
NM_206933.3:c.7038C>T	NP_996816.2:p.His2346=
NM_206933.4:c.7038C>T MANE Select	NP_996816.3:p.His2346=