Canonical Allele Identifier: CA1396749

Gene: USH2A

Linked Data

• dbSNP Id: rs778605388
• ExAC: 1:216591940 G / A
• gnomAD v2: 1-216591940-G-A
• gnomAD v4: 1-216418598-G-A
• MyVariant Identifiers: chr1:g.216591940G>A (hg19) ; chr1:g.216418598G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216418598G>A , CM000663.2:g.216418598G>A	GRCh38
NC_000001.10:g.216591940G>A , CM000663.1:g.216591940G>A	GRCh37
NC_000001.9:g.214658563G>A	NCBI36
NG_009497.1:g.9799C>T
NG_009497.2:g.9851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.567C>T MANE Select	ENSP00000305941.3:p.Arg189=
ENST00000674083.1:c.567C>T	ENSP00000501296.1:p.Arg189=
ENST00000307340.7:c.567C>T	ENSP00000305941.3:p.Arg189=
ENST00000366942.3:c.567C>T	ENSP00000355909.3:p.Arg189=
NM_007123.5:c.567C>T	NP_009054.5:p.Arg189=
NM_206933.2:c.567C>T	NP_996816.2:p.Arg189=
NM_206933.3:c.567C>T	NP_996816.2:p.Arg189=
NM_007123.6:c.567C>T	NP_009054.6:p.Arg189=
NM_206933.4:c.567C>T MANE Select	NP_996816.3:p.Arg189=