Canonical Allele Identifier: CA344824692

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.215990418C>A (hg19) ; chr1:g.215817076C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215817076C>A , CM000663.2:g.215817076C>A	GRCh38
NC_000001.10:g.215990418C>A , CM000663.1:g.215990418C>A	GRCh37
NC_000001.9:g.214057041C>A	NCBI36
NG_009497.1:g.611321G>T
NG_009497.2:g.611373G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9491G>T MANE Select	ENSP00000305941.3:p.Ser3164Ile
ENST00000674083.1:c.9491G>T	ENSP00000501296.1:p.Ser3164Ile
ENST00000307340.7:c.9491G>T	ENSP00000305941.3:p.Ser3164Ile
NM_206933.2:c.9491G>T	NP_996816.2:p.Ser3164Ile
NM_206933.3:c.9491G>T	NP_996816.2:p.Ser3164Ile
NM_206933.4:c.9491G>T MANE Select	NP_996816.3:p.Ser3164Ile