Canonical Allele Identifier: CA1393320

Gene: USH2A

Linked Data

• ClinVar Variation Id: 438011
• ClinVar RCV Id: RCV000504678 ; RCV000733677 ; RCV001358731 ; RCV003470634
• dbSNP Id: rs201238640
• ExAC: 1:215847979 G / A
• gnomAD v2: 1-215847979-G-A
• gnomAD v3: 1-215674637-G-A
• gnomAD v4: 1-215674637-G-A
• MyVariant Identifiers: chr1:g.215847979G>A (hg19) ; chr1:g.215674637G>A (hg38)
• PubMed: PMID:15015129 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215674637G>A , CM000663.2:g.215674637G>A	GRCh38
NC_000001.10:g.215847979G>A , CM000663.1:g.215847979G>A	GRCh37
NC_000001.9:g.213914602G>A	NCBI36
NG_009497.1:g.753760C>T
NG_009497.2:g.753812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13274C>T MANE Select	ENSP00000305941.3:p.Thr4425Met
ENST00000674083.1:c.13274C>T	ENSP00000501296.1:p.Thr4425Met
ENST00000307340.7:c.13274C>T	ENSP00000305941.3:p.Thr4425Met
NM_206933.2:c.13274C>T	NP_996816.2:p.Thr4425Met
NM_206933.3:c.13274C>T	NP_996816.2:p.Thr4425Met
NM_206933.4:c.13274C>T MANE Select	NP_996816.3:p.Thr4425Met