Canonical Allele Identifier: CA529002119
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1224455747
gnomAD v2: 1-215848975-G-GA
gnomAD v4: 1-215675633-G-GA
MyVariant Identifiers: chr1:g.215848975_215848976insA (hg19) chr1:g.215675633_215675634insA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675633_215675634insA , CM000663.2:g.215675633_215675634insA GRCh38
NC_000001.10:g.215848975_215848976insA , CM000663.1:g.215848975_215848976insA GRCh37
NC_000001.9:g.213915598_213915599insA NCBI36
NG_009497.1:g.752763_752764insT
NG_009497.2:g.752815_752816insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12295-18_12295-17insT MANE Select ENSP00000305941.3:n.12295-18_12295-17insT
ENST00000674083.1:c.12295-18_12295-17insT ENSP00000501296.1:n.12295-18_12295-17insT
ENST00000307340.7:c.12295-18_12295-17insT ENSP00000305941.3:n.12295-18_12295-17insT
NM_206933.2:c.12295-18_12295-17insT NP_996816.2:n.12295-18_12295-17insT
NM_206933.3:c.12295-18_12295-17insT NP_996816.2:n.12295-18_12295-17insT
NM_206933.4:c.12295-18_12295-17insT MANE Select NP_996816.3:n.12295-18_12295-17insT
Search 100 bp 5'
Search 100 bp 3'