Canonical Allele Identifier: CA1394019

Gene: USH2A

Linked Data

• ClinVar Variation Id: 444201
• ClinVar RCV Id: RCV000513346 ; RCV001834645
• dbSNP Id: rs530322386
• ExAC: 1:215956252 T / C
• gnomAD v2: 1-215956252-T-C
• gnomAD v3: 1-215782910-T-C
• gnomAD v4: 1-215782910-T-C
• MyVariant Identifiers: chr1:g.215956252T>C (hg19) ; chr1:g.215782910T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782910T>C , CM000663.2:g.215782910T>C	GRCh38
NC_000001.10:g.215956252T>C , CM000663.1:g.215956252T>C	GRCh37
NC_000001.9:g.214022875T>C	NCBI36
NG_009497.1:g.645487A>G
NG_009497.2:g.645539A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10413A>G MANE Select	ENSP00000305941.3:p.Thr3471=
ENST00000674083.1:c.10413A>G	ENSP00000501296.1:p.Thr3471=
ENST00000307340.7:c.10413A>G	ENSP00000305941.3:p.Thr3471=
NM_206933.2:c.10413A>G	NP_996816.2:p.Thr3471=
NM_206933.3:c.10413A>G	NP_996816.2:p.Thr3471=
NM_206933.4:c.10413A>G MANE Select	NP_996816.3:p.Thr3471=