Canonical Allele Identifier: CA2650528357

Gene: USH2A

Linked Data

• gnomAD v4: 1-215816944-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215816946dup , CM000663.2:g.215816946dup	GRCh38
NC_000001.10:g.215990288dup , CM000663.1:g.215990288dup	GRCh37
NC_000001.9:g.214056911dup	NCBI36
NG_009497.1:g.611452dup
NG_009497.2:g.611504dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9570+52dup MANE Select	ENSP00000305941.3:n.9570+52dup
ENST00000674083.1:c.9570+52dup	ENSP00000501296.1:n.9570+52dup
ENST00000307340.7:c.9570+52dup	ENSP00000305941.3:n.9570+52dup
NM_206933.2:c.9570+52dup	NP_996816.2:n.9570+52dup
NM_206933.3:c.9570+52dup	NP_996816.2:n.9570+52dup
NM_206933.4:c.9570+52dup MANE Select	NP_996816.3:n.9570+52dup