Canonical Allele Identifier: CA344837112

Gene: USH2A

Linked Data

• dbSNP Id: rs1298379123
• gnomAD v2: 1-215955536-G-T
• MyVariant Identifiers: chr1:g.215955536G>T (hg19) ; chr1:g.215782194G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782194G>T , CM000663.2:g.215782194G>T	GRCh38
NC_000001.10:g.215955536G>T , CM000663.1:g.215955536G>T	GRCh37
NC_000001.9:g.214022159G>T	NCBI36
NG_009497.1:g.646203C>A
NG_009497.2:g.646255C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.10588C>A MANE Select	ENSP00000305941.3:p.Pro3530Thr
ENST00000674083.1:c.10588C>A	ENSP00000501296.1:p.Pro3530Thr
ENST00000307340.7:c.10588C>A	ENSP00000305941.3:p.Pro3530Thr
NM_206933.2:c.10588C>A	NP_996816.2:p.Pro3530Thr
NM_206933.3:c.10588C>A	NP_996816.2:p.Pro3530Thr
NM_206933.4:c.10588C>A MANE Select	NP_996816.3:p.Pro3530Thr