Canonical Allele Identifier: CA1393248

Gene: USH2A

Linked Data

• ClinVar Variation Id: 424929
• ClinVar RCV Id: RCV000487808 ; RCV003389473 ; RCV004541531
• dbSNP Id: rs553956503
• ExAC: 1:215847604 A / C
• gnomAD v2: 1-215847604-A-C
• gnomAD v3: 1-215674262-A-C
• gnomAD v4: 1-215674262-A-C
• MyVariant Identifiers: chr1:g.215847604A>C (hg19) ; chr1:g.215674262A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215674262A>C , CM000663.2:g.215674262A>C	GRCh38
NC_000001.10:g.215847604A>C , CM000663.1:g.215847604A>C	GRCh37
NC_000001.9:g.213914227A>C	NCBI36
NG_009497.1:g.754135T>G
NG_009497.2:g.754187T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13649T>G MANE Select	ENSP00000305941.3:p.Val4550Gly
ENST00000674083.1:c.13649T>G	ENSP00000501296.1:p.Val4550Gly
ENST00000307340.7:c.13649T>G	ENSP00000305941.3:p.Val4550Gly
NM_206933.2:c.13649T>G	NP_996816.2:p.Val4550Gly
NM_206933.3:c.13649T>G	NP_996816.2:p.Val4550Gly
NM_206933.4:c.13649T>G MANE Select	NP_996816.3:p.Val4550Gly