Canonical Allele Identifier: CA1393316

Gene: USH2A

Linked Data

• ClinVar Variation Id: 438012
• ClinVar RCV Id: RCV000505059 ; RCV001379273 ; RCV003470635
• dbSNP Id: rs762388072
• ExAC: 1:215847922 G / A
• gnomAD v2: 1-215847922-G-A
• gnomAD v3: 1-215674580-G-A
• gnomAD v4: 1-215674580-G-A
• MyVariant Identifiers: chr1:g.215847922G>A (hg19) ; chr1:g.215674580G>A (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215674580G>A , CM000663.2:g.215674580G>A	GRCh38
NC_000001.10:g.215847922G>A , CM000663.1:g.215847922G>A	GRCh37
NC_000001.9:g.213914545G>A	NCBI36
NG_009497.1:g.753817C>T
NG_009497.2:g.753869C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13331C>T MANE Select	ENSP00000305941.3:p.Pro4444Leu
ENST00000674083.1:c.13331C>T	ENSP00000501296.1:p.Pro4444Leu
ENST00000307340.7:c.13331C>T	ENSP00000305941.3:p.Pro4444Leu
NM_206933.2:c.13331C>T	NP_996816.2:p.Pro4444Leu
NM_206933.3:c.13331C>T	NP_996816.2:p.Pro4444Leu
NM_206933.4:c.13331C>T MANE Select	NP_996816.3:p.Pro4444Leu