Canonical Allele Identifier: CA528709872

Gene: USH2A

Linked Data

• dbSNP Id: rs1218837565
• gnomAD v2: 1-216062419-A-G
• gnomAD v3: 1-215889077-A-G
• gnomAD v4: 1-215889077-A-G
• MyVariant Identifiers: chr1:g.216062419A>G (hg19) ; chr1:g.215889077A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215889077A>G , CM000663.2:g.215889077A>G	GRCh38
NC_000001.10:g.216062419A>G , CM000663.1:g.216062419A>G	GRCh37
NC_000001.9:g.214129042A>G	NCBI36
NG_009497.1:g.539320T>C
NG_009497.2:g.539372T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7595-23T>C MANE Select	ENSP00000305941.3:n.7595-23T>C
ENST00000674083.1:c.7595-23T>C	ENSP00000501296.1:n.7595-23T>C
ENST00000307340.7:c.7595-23T>C	ENSP00000305941.3:n.7595-23T>C
NM_206933.2:c.7595-23T>C	NP_996816.2:n.7595-23T>C
NM_206933.3:c.7595-23T>C	NP_996816.2:n.7595-23T>C
NM_206933.4:c.7595-23T>C MANE Select	NP_996816.3:n.7595-23T>C