Canonical Allele Identifier: CA143221

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48349
• ClinVar RCV Id: RCV000041670 ; RCV000669162 ; RCV001350663
• dbSNP Id: rs397517966
• ExAC: 1:215956148 G / A
• gnomAD v2: 1-215956148-G-A
• gnomAD v3: 1-215782806-G-A
• gnomAD v4: 1-215782806-G-A
• MyVariant Identifiers: chr1:g.215956148G>A (hg19) ; chr1:g.215782806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782806G>A , CM000663.2:g.215782806G>A	GRCh38
NC_000001.10:g.215956148G>A , CM000663.1:g.215956148G>A	GRCh37
NC_000001.9:g.214022771G>A	NCBI36
NG_009497.1:g.645591C>T
NG_009497.2:g.645643C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10517C>T MANE Select	ENSP00000305941.3:p.Thr3506Met
ENST00000674083.1:c.10517C>T	ENSP00000501296.1:p.Thr3506Met
ENST00000307340.7:c.10517C>T	ENSP00000305941.3:p.Thr3506Met
NM_206933.2:c.10517C>T	NP_996816.2:p.Thr3506Met
NM_206933.3:c.10517C>T	NP_996816.2:p.Thr3506Met
NM_206933.4:c.10517C>T MANE Select	NP_996816.3:p.Thr3506Met