Canonical Allele Identifier: CA2747721900

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799199_215799200insGTG , CM000663.2:g.215799199_215799200insGTG	GRCh38
NC_000001.10:g.215972541_215972542insGTG , CM000663.1:g.215972541_215972542insGTG	GRCh37
NC_000001.9:g.214039164_214039165insGTG	NCBI36
NG_009497.1:g.629197_629198insCAC
NG_009497.2:g.629249_629250insCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-75_9740-74insCAC MANE Select	ENSP00000305941.3:n.9740-75_9740-74insCAC
ENST00000674083.1:c.9740-75_9740-74insCAC	ENSP00000501296.1:n.9740-75_9740-74insCAC
ENST00000307340.7:c.9740-75_9740-74insCAC	ENSP00000305941.3:n.9740-75_9740-74insCAC
NM_206933.2:c.9740-75_9740-74insCAC	NP_996816.2:n.9740-75_9740-74insCAC
NM_206933.3:c.9740-75_9740-74insCAC	NP_996816.2:n.9740-75_9740-74insCAC
NM_206933.4:c.9740-75_9740-74insCAC MANE Select	NP_996816.3:n.9740-75_9740-74insCAC