Canonical Allele Identifier: CA2650508990

Gene: USH2A

Linked Data

• gnomAD v4: 1-216070413-T-TGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070413_216070414insGC , CM000663.2:g.216070413_216070414insGC	GRCh38
NC_000001.10:g.216243755_216243756insGC , CM000663.1:g.216243755_216243756insGC	GRCh37
NC_000001.9:g.214310378_214310379insGC	NCBI36
NG_009497.1:g.357983_357984insGC
NG_009497.2:g.358035_358036insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-122_5858-121insGC MANE Select	ENSP00000305941.3:n.5858-122_5858-121insGC
ENST00000674083.1:c.5858-122_5858-121insGC	ENSP00000501296.1:n.5858-122_5858-121insGC
ENST00000307340.7:c.5858-122_5858-121insGC	ENSP00000305941.3:n.5858-122_5858-121insGC
NM_206933.2:c.5858-122_5858-121insGC	NP_996816.2:n.5858-122_5858-121insGC
NM_206933.3:c.5858-122_5858-121insGC	NP_996816.2:n.5858-122_5858-121insGC
NM_206933.4:c.5858-122_5858-121insGC MANE Select	NP_996816.3:n.5858-122_5858-121insGC