Canonical Allele Identifier: CA4802562

Gene: NBN OSGIN2

Linked Data

• ClinVar Variation Id: 480044
• ClinVar RCV Id: RCV000564630 ; RCV000578737 ; RCV000698449
• dbSNP Id: rs751570713
• ExAC: 8:90947837 G / T
• gnomAD v2: 8-90947837-G-T
• gnomAD v4: 8-89935609-G-T
• MyVariant Identifiers: chr8:g.90947837G>T (hg19) ; chr8:g.89935609G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89935609G>T , CM000670.2:g.89935609G>T	GRCh38
NC_000008.10:g.90947837G>T , CM000670.1:g.90947837G>T	GRCh37
NC_000008.9:g.91017013G>T	NCBI36
NG_008860.1:g.54063C>A , LRG_158:g.54063C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000474821.2:n.3658C>A (NBN)
ENST00000494804.2:n.3540C>A (NBN)
ENST00000517337.2:c.1992C>A (NBN)	ENSP00000429971.2:p.Tyr664Ter
ENST00000523444.2:c.1992C>A (NBN)	ENSP00000428252.2:p.Tyr664Ter
ENST00000697292.1:c.2238C>A (NBN)	ENSP00000513229.1:p.Tyr746Ter
ENST00000697293.1:c.2289C>A (NBN)	ENSP00000513230.1:p.Tyr763Ter
ENST00000697294.1:c.*1849C>A (NBN)	ENSP00000513231.1:n.*1849C>A
ENST00000697295.1:c.*1547C>A (NBN)	ENSP00000513232.1:n.*1547C>A
ENST00000697296.1:c.*1906C>A (NBN)	ENSP00000513233.1:n.*1906C>A
ENST00000697297.1:n.4023C>A (NBN)
ENST00000697298.1:c.1992C>A (NBN)	ENSP00000513234.1:p.Tyr664Ter
ENST00000697299.1:c.1992C>A (NBN)	ENSP00000513235.1:p.Tyr664Ter
ENST00000697300.1:c.*1842C>A (NBN)	ENSP00000513236.1:n.*1842C>A
ENST00000697301.1:c.*1759C>A (NBN)	ENSP00000513237.1:n.*1759C>A
ENST00000697302.1:c.*1759C>A (NBN)	ENSP00000513238.1:n.*1759C>A
ENST00000697303.1:c.*1842C>A (NBN)	ENSP00000513239.1:n.*1842C>A
ENST00000697304.1:c.1926C>A (NBN)	ENSP00000513240.1:p.Tyr642Ter
ENST00000697305.1:n.2505C>A (NBN)
ENST00000697306.1:c.*2789C>A (NBN)	ENSP00000513241.1:n.*2789C>A
ENST00000697307.1:c.2013C>A (NBN)	ENSP00000513242.1:p.Tyr671Ter
ENST00000697308.1:c.2169C>A (NBN)	ENSP00000513243.1:p.Tyr723Ter
ENST00000697309.1:c.2188C>A (NBN)	ENSP00000513244.1:p.Gln730Lys
ENST00000697310.1:c.2238C>A (NBN)	ENSP00000513245.1:p.Tyr746Ter
ENST00000697311.1:c.*503C>A (NBN)	ENSP00000513246.1:n.*503C>A
ENST00000697312.1:c.*1691C>A (NBN)	ENSP00000513247.1:n.*1691C>A
ENST00000697313.1:n.2691C>A (NBN)
ENST00000697314.1:n.3640C>A (NBN)
ENST00000697315.1:c.*142C>A (NBN)	ENSP00000513248.1:n.*142C>A
ENST00000265433.8:c.2238C>A (NBN) MANE Select	ENSP00000265433.4:p.Tyr746Ter
ENST00000265433.7:c.2238C>A (NBN)	ENSP00000265433.3:p.Tyr746Ter
ENST00000396252.6:c.*2111C>A (NBN)	ENSP00000379551.2:n.*2111C>A
ENST00000409330.5:c.1992C>A (NBN)	ENSP00000386924.1:p.Tyr664Ter
ENST00000474821.1:n.326C>A (NBN)
ENST00000613033.1:c.348C>A (NBN)	ENSP00000484487.1:p.Tyr116Ter
NM_001024688.2:c.1992C>A (NBN)	NP_001019859.1:p.Tyr664Ter
NM_002485.4:c.2238C>A , LRG_158t1:c.2238C>A (NBN)	NP_002476.2:p.Tyr746Ter
XM_011517044.1:c.2214C>A (NBN)	XP_011515346.1:p.Tyr738Ter
XM_011517045.1:c.1992C>A (NBN)	XP_011515347.1:p.Tyr664Ter
XM_011517287.3:c.*10077G>T (OSGIN2)	XP_011515589.1:n.*10077G>T
XM_011517288.3:c.*10077G>T (OSGIN2)	XP_011515590.1:n.*10077G>T
XM_017013460.1:c.1359C>A (NBN)	XP_016868949.1:p.Tyr453Ter
XM_017013462.2:c.1359C>A (NBN)	XP_016868951.1:p.Tyr453Ter
XM_024447163.1:c.1992C>A (NBN)	XP_024302931.1:p.Tyr664Ter
XM_024447164.1:c.1992C>A (NBN)	XP_024302932.1:p.Tyr664Ter
XM_024447165.1:c.1359C>A (NBN)	XP_024302933.1:p.Tyr453Ter
NM_002485.5:c.2238C>A (NBN) MANE Select	NP_002476.2:p.Tyr746Ter
NM_001024688.3:c.1992C>A (NBN)	NP_001019859.1:p.Tyr664Ter