Canonical Allele Identifier: CA1393694

Gene: USH2A

Linked Data

• dbSNP Id: rs758583044
• ExAC: 1:215916550 C / T
• gnomAD v2: 1-215916550-C-T
• gnomAD v3: 1-215743208-C-T
• gnomAD v4: 1-215743208-C-T
• MyVariant Identifiers: chr1:g.215916550C>T (hg19) ; chr1:g.215916550_215916551delinsTT (hg19) ; chr1:g.215743208C>T (hg38) ; chr1:g.215743208_215743209delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215743208C>T , CM000663.2:g.215743208C>T	GRCh38
NC_000001.10:g.215916550C>T , CM000663.1:g.215916550C>T	GRCh37
NC_000001.9:g.213983173C>T	NCBI36
NG_009497.1:g.685189G>A
NG_009497.2:g.685241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11517G>A MANE Select	ENSP00000305941.3:p.Gln3839=
ENST00000674083.1:c.11517G>A	ENSP00000501296.1:p.Gln3839=
ENST00000307340.7:c.11517G>A	ENSP00000305941.3:p.Gln3839=
NM_206933.2:c.11517G>A	NP_996816.2:p.Gln3839=
NM_206933.3:c.11517G>A	NP_996816.2:p.Gln3839=
NM_206933.4:c.11517G>A MANE Select	NP_996816.3:p.Gln3839=