Canonical Allele Identifier: CA1393843

Gene: USH2A

Linked Data

• ClinVar Variation Id: 799057
• ClinVar RCV Id: RCV000982632
• dbSNP Id: rs778693513
• ExAC: 1:215940013 G / A
• gnomAD v2: 1-215940013-G-A
• gnomAD v3: 1-215766671-G-A
• gnomAD v4: 1-215766671-G-A
• MyVariant Identifiers: chr1:g.215940013G>A (hg19) ; chr1:g.215766671G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215766671G>A , CM000663.2:g.215766671G>A	GRCh38
NC_000001.10:g.215940013G>A , CM000663.1:g.215940013G>A	GRCh37
NC_000001.9:g.214006636G>A	NCBI36
NG_009497.1:g.661726C>T
NG_009497.2:g.661778C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.11047+10C>T MANE Select	ENSP00000305941.3:n.11047+10C>T
ENST00000674083.1:c.11047+10C>T	ENSP00000501296.1:n.11047+10C>T
ENST00000307340.7:c.11047+10C>T	ENSP00000305941.3:n.11047+10C>T
NM_206933.2:c.11047+10C>T	NP_996816.2:n.11047+10C>T
NM_206933.3:c.11047+10C>T	NP_996816.2:n.11047+10C>T
NM_206933.4:c.11047+10C>T MANE Select	NP_996816.3:n.11047+10C>T