Canonical Allele Identifier: CA2650498106

Gene: USH2A

Linked Data

• gnomAD v4: 1-215640799-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640799_215640800insAA , CM000663.2:g.215640799_215640800insAA	GRCh38
NC_000001.10:g.215814141_215814142insAA , CM000663.1:g.215814141_215814142insAA	GRCh37
NC_000001.9:g.213880764_213880765insAA	NCBI36
NG_009497.1:g.787597_787598insTT
NG_009497.2:g.787649_787650insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-66_14792-65insTT MANE Select	ENSP00000305941.3:n.14792-66_14792-65insTT
ENST00000674083.1:c.14792-66_14792-65insTT	ENSP00000501296.1:n.14792-66_14792-65insTT
ENST00000307340.7:c.14792-66_14792-65insTT	ENSP00000305941.3:n.14792-66_14792-65insTT
NM_206933.2:c.14792-66_14792-65insTT	NP_996816.2:n.14792-66_14792-65insTT
NM_206933.3:c.14792-66_14792-65insTT	NP_996816.2:n.14792-66_14792-65insTT
NM_206933.4:c.14792-66_14792-65insTT MANE Select	NP_996816.3:n.14792-66_14792-65insTT