Canonical Allele Identifier: CA344836380

Gene: USH2A

Linked Data

• ClinVar Variation Id: 2744625
• ClinVar RCV Id: RCV003565717
• MyVariant Identifiers: chr1:g.215955433G>C (hg19) ; chr1:g.215782091G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782091G>C , CM000663.2:g.215782091G>C	GRCh38
NC_000001.10:g.215955433G>C , CM000663.1:g.215955433G>C	GRCh37
NC_000001.9:g.214022056G>C	NCBI36
NG_009497.1:g.646306C>G
NG_009497.2:g.646358C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.10691C>G MANE Select	ENSP00000305941.3:p.Ser3564Ter
ENST00000674083.1:c.10691C>G	ENSP00000501296.1:p.Ser3564Ter
ENST00000307340.7:c.10691C>G	ENSP00000305941.3:p.Ser3564Ter
NM_206933.2:c.10691C>G	NP_996816.2:p.Ser3564Ter
NM_206933.3:c.10691C>G	NP_996816.2:p.Ser3564Ter
NM_206933.4:c.10691C>G MANE Select	NP_996816.3:p.Ser3564Ter