Canonical Allele Identifier: CA8754141

Gene: OTOP2 USH1G

Linked Data

• ClinVar Variation Id: 283166
• ClinVar RCV Id: RCV000343971 ; RCV001127510
• dbSNP Id: rs758940726
• ExAC: 17:72919170 G / A
• gnomAD v2: 17-72919170-G-A
• gnomAD v3: 17-74923075-G-A
• gnomAD v4: 17-74923075-G-A
• MyVariant Identifiers: chr17:g.72919170G>A (hg19) ; chr17:g.74923075G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74923075G>A , CM000679.2:g.74923075G>A	GRCh38
NC_000017.10:g.72919170G>A , CM000679.1:g.72919170G>A	GRCh37
NC_000017.9:g.70430765G>A	NCBI36
NG_007882.1:g.5182C>T
NG_033062.1:g.3801G>A
NG_007882.2:g.5189C>T
NG_033062.2:g.3801G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000580223.2:c.-231+41G>A (OTOP2)	ENSP00000463837.2:n.-231+41G>A
ENST00000614341.5:c.-2C>T (USH1G) MANE Select	ENSP00000480279.1:n.-2C>T
ENST00000579243.1:c.-2C>T (USH1G)	ENSP00000462568.1:n.-2C>T
ENST00000614341.4:c.-2C>T (USH1G)	ENSP00000480279.1:n.-2C>T
NM_001282489.2:c.-258C>T (USH1G)	NP_001269418.1:n.-258C>T
NM_173477.4:c.-2C>T (USH1G)	NP_775748.2:n.-2C>T
XM_011525479.1:c.-231+41G>A (OTOP2)	XP_011523781.1:n.-231+41G>A
XM_011525479.2:c.-231+41G>A (OTOP2)	XP_011523781.1:n.-231+41G>A
NM_173477.5:c.-2C>T (USH1G) MANE Select	NP_775748.2:n.-2C>T
NM_001282489.3:c.-258C>T (USH1G)	NP_001269418.1:n.-258C>T