Canonical Allele Identifier: CA2747729356

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070341_216070342insT , CM000663.2:g.216070341_216070342insT	GRCh38
NC_000001.10:g.216243683_216243684insT , CM000663.1:g.216243683_216243684insT	GRCh37
NC_000001.9:g.214310306_214310307insT	NCBI36
NG_009497.1:g.358055_358056insA
NG_009497.2:g.358107_358108insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-50_5858-49insA MANE Select	ENSP00000305941.3:n.5858-50_5858-49insA
ENST00000674083.1:c.5858-50_5858-49insA	ENSP00000501296.1:n.5858-50_5858-49insA
ENST00000307340.7:c.5858-50_5858-49insA	ENSP00000305941.3:n.5858-50_5858-49insA
NM_206933.2:c.5858-50_5858-49insA	NP_996816.2:n.5858-50_5858-49insA
NM_206933.3:c.5858-50_5858-49insA	NP_996816.2:n.5858-50_5858-49insA
NM_206933.4:c.5858-50_5858-49insA MANE Select	NP_996816.3:n.5858-50_5858-49insA