Canonical Allele Identifier: CA344844669

Gene: USH2A

Linked Data

• ClinVar Variation Id: 498883
• ClinVar RCV Id: RCV000594966 ; RCV001834880 ; RCV003987614
• dbSNP Id: rs774759345
• gnomAD v3: 1-215674364-C-G
• gnomAD v4: 1-215674364-C-G
• MyVariant Identifiers: chr1:g.215847706C>G (hg19) ; chr1:g.215674364C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215674364C>G , CM000663.2:g.215674364C>G	GRCh38
NC_000001.10:g.215847706C>G , CM000663.1:g.215847706C>G	GRCh37
NC_000001.9:g.213914329C>G	NCBI36
NG_009497.1:g.754033G>C
NG_009497.2:g.754085G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13547G>C MANE Select	ENSP00000305941.3:p.Gly4516Ala
ENST00000674083.1:c.13547G>C	ENSP00000501296.1:p.Gly4516Ala
ENST00000307340.7:c.13547G>C	ENSP00000305941.3:p.Gly4516Ala
NM_206933.2:c.13547G>C	NP_996816.2:p.Gly4516Ala
NM_206933.3:c.13547G>C	NP_996816.2:p.Gly4516Ala
NM_206933.4:c.13547G>C MANE Select	NP_996816.3:p.Gly4516Ala