Canonical Allele Identifier: CA344815854

Gene: USH2A

Linked Data

• ClinVar Variation Id: 2581617
• ClinVar RCV Id: RCV003332022 ; RCV003561309
• MyVariant Identifiers: chr1:g.215853524C>G (hg19) ; chr1:g.215680182C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215680182C>G , CM000663.2:g.215680182C>G	GRCh38
NC_000001.10:g.215853524C>G , CM000663.1:g.215853524C>G	GRCh37
NC_000001.9:g.213920147C>G	NCBI36
NG_009497.1:g.748215G>C
NG_009497.2:g.748267G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12261G>C MANE Select	ENSP00000305941.3:p.Trp4087Cys
ENST00000674083.1:c.12261G>C	ENSP00000501296.1:p.Trp4087Cys
ENST00000307340.7:c.12261G>C	ENSP00000305941.3:p.Trp4087Cys
NM_206933.2:c.12261G>C	NP_996816.2:p.Trp4087Cys
NM_206933.3:c.12261G>C	NP_996816.2:p.Trp4087Cys
NM_206933.4:c.12261G>C MANE Select	NP_996816.3:p.Trp4087Cys