Canonical Allele Identifier: CA1393863

Gene: USH2A

Linked Data

• ClinVar Variation Id: 717262
• ClinVar RCV Id: RCV000890025 ; RCV001274945
• dbSNP Id: rs372690499
• ExAC: 1:215940120 T / C
• gnomAD v2: 1-215940120-T-C
• gnomAD v3: 1-215766778-T-C
• gnomAD v4: 1-215766778-T-C
• MyVariant Identifiers: chr1:g.215940120T>C (hg19) ; chr1:g.215766778T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215766778T>C , CM000663.2:g.215766778T>C	GRCh38
NC_000001.10:g.215940120T>C , CM000663.1:g.215940120T>C	GRCh37
NC_000001.9:g.214006743T>C	NCBI36
NG_009497.1:g.661619A>G
NG_009497.2:g.661671A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10950A>G MANE Select	ENSP00000305941.3:p.Pro3650=
ENST00000674083.1:c.10950A>G	ENSP00000501296.1:p.Pro3650=
ENST00000307340.7:c.10950A>G	ENSP00000305941.3:p.Pro3650=
NM_206933.2:c.10950A>G	NP_996816.2:p.Pro3650=
NM_206933.3:c.10950A>G	NP_996816.2:p.Pro3650=
NM_206933.4:c.10950A>G MANE Select	NP_996816.3:p.Pro3650=