Canonical Allele Identifier: CA529002073

Gene: USH2A

Linked Data

• dbSNP Id: rs1553249497
• gnomAD v2: 1-215814203-AAG-A
• gnomAD v3: 1-215640861-AAG-A
• gnomAD v4: 1-215640861-AAG-A
• MyVariant Identifiers: chr1:g.215814204_215814205del (hg19) ; chr1:g.215640862_215640863del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215640863_215640864del , CM000663.2:g.215640863_215640864del	GRCh38
NC_000001.10:g.215814205_215814206del , CM000663.1:g.215814205_215814206del	GRCh37
NC_000001.9:g.213880828_213880829del	NCBI36
NG_009497.1:g.787534_787535del
NG_009497.2:g.787586_787587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14792-129_14792-128del MANE Select	ENSP00000305941.3:n.14792-129_14792-128del
ENST00000674083.1:c.14792-129_14792-128del	ENSP00000501296.1:n.14792-129_14792-128del
ENST00000307340.7:c.14792-129_14792-128del	ENSP00000305941.3:n.14792-129_14792-128del
NM_206933.2:c.14792-129_14792-128del	NP_996816.2:n.14792-129_14792-128del
NM_206933.3:c.14792-129_14792-128del	NP_996816.2:n.14792-129_14792-128del
NM_206933.4:c.14792-129_14792-128del MANE Select	NP_996816.3:n.14792-129_14792-128del