Canonical Allele Identifier: CA1393914

Gene: USH2A

Linked Data

• ClinVar Variation Id: 855225
• ClinVar RCV Id: RCV001060442 ; RCV003467808 ; RCV003455273
• dbSNP Id: rs750321557
• ExAC: 1:215953304 T / G
• gnomAD v2: 1-215953304-T-G
• gnomAD v3: 1-215779962-T-G
• gnomAD v4: 1-215779962-T-G
• MyVariant Identifiers: chr1:g.215953304T>G (hg19) ; chr1:g.215779962T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215779962T>G , CM000663.2:g.215779962T>G	GRCh38
NC_000001.10:g.215953304T>G , CM000663.1:g.215953304T>G	GRCh37
NC_000001.9:g.214019927T>G	NCBI36
NG_009497.1:g.648435A>C
NG_009497.2:g.648487A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10820A>C MANE Select	ENSP00000305941.3:p.His3607Pro
ENST00000674083.1:c.10820A>C	ENSP00000501296.1:p.His3607Pro
ENST00000307340.7:c.10820A>C	ENSP00000305941.3:p.His3607Pro
NM_206933.2:c.10820A>C	NP_996816.2:p.His3607Pro
NM_206933.3:c.10820A>C	NP_996816.2:p.His3607Pro
NM_206933.4:c.10820A>C MANE Select	NP_996816.3:p.His3607Pro