Canonical Allele Identifier: CA645522757

Gene: USH2A

Linked Data

• COSMIC: COSM5845446 ; COSM5845447

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215759658_215759659delinsTT , CM000663.2:g.215759658_215759659delinsTT	GRCh38
NC_000001.10:g.215933000_215933001delinsTT , CM000663.1:g.215933000_215933001delinsTT	GRCh37
NC_000001.9:g.213999623_213999624delinsTT	NCBI36
NG_009497.1:g.668738_668739delinsAA
NG_009497.2:g.668790_668791delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11231+1_11231+2delinsAA MANE Select	ENSP00000305941.3:n.11231+1_11231+2delinsAA
ENST00000674083.1:c.11231+1_11231+2delinsAA	ENSP00000501296.1:n.11231+1_11231+2delinsAA
ENST00000307340.7:c.11231+1_11231+2delinsAA	ENSP00000305941.3:n.11231+1_11231+2delinsAA
NM_206933.2:c.11231+1_11231+2delinsAA	NP_996816.2:n.11231+1_11231+2delinsAA
NM_206933.3:c.11231+1_11231+2delinsAA	NP_996816.2:n.11231+1_11231+2delinsAA
NM_206933.4:c.11231+1_11231+2delinsAA MANE Select	NP_996816.3:n.11231+1_11231+2delinsAA