Canonical Allele Identifier: CA179529

Gene: USH2A

Linked Data

• ClinVar Variation Id: 166466
• ClinVar RCV Id: RCV000152588 ; RCV000671038 ; RCV001307268
• dbSNP Id: rs559922535
• ExAC: 1:216019228 G / C
• gnomAD v2: 1-216019228-G-C
• gnomAD v3: 1-215845886-G-C
• gnomAD v4: 1-215845886-G-C
• MyVariant Identifiers: chr1:g.216019228G>C (hg19) ; chr1:g.215845886G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215845886G>C , CM000663.2:g.215845886G>C	GRCh38
NC_000001.10:g.216019228G>C , CM000663.1:g.216019228G>C	GRCh37
NC_000001.9:g.214085851G>C	NCBI36
NG_009497.1:g.582511C>G
NG_009497.2:g.582563C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.8993C>G MANE Select	ENSP00000305941.3:p.Ser2998Cys
ENST00000674083.1:c.8993C>G	ENSP00000501296.1:p.Ser2998Cys
ENST00000307340.7:c.8993C>G	ENSP00000305941.3:p.Ser2998Cys
NM_206933.2:c.8993C>G	NP_996816.2:p.Ser2998Cys
NM_206933.3:c.8993C>G	NP_996816.2:p.Ser2998Cys
NM_206933.4:c.8993C>G MANE Select	NP_996816.3:p.Ser2998Cys