Linked Data
ClinVar Variation Id:
135041
ClinVar RCV Id:
RCV000121814
dbSNP Id:
rs587778608
MyVariant Identifiers:
chr2:g.190660536_190660537delinsTA (hg19)
chr2:g.189795810_189795811delinsTA (hg38)
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189795810_189795811delinsTA , CM000664.2:g.189795810_189795811delinsTA | GRCh38 |
| NC_000002.11:g.190660536_190660537delinsTA , CM000664.1:g.190660536_190660537delinsTA | GRCh37 |
| NC_000002.10:g.190368781_190368782delinsTA | NCBI36 |
| NG_008648.1:g.16726_16727delinsTA , LRG_221:g.16726_16727delinsTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441310.7:c.174_175delinsTA MANE Select | ENSP00000406490.3:p.Glu59Lys | |
| ENST00000639501.1:c.174_175delinsTA | ENSP00000491236.1:p.Glu59Lys | |
| ENST00000342075.8:c.174_175delinsTA | ENSP00000343888.4:p.Glu59Lys | |
| ENST00000374826.8:c.174_175delinsTA | ENSP00000363959.4:p.Glu59Lys | |
| ENST00000409823.7:c.174_175delinsTA | ENSP00000387125.3:p.Glu59Lys | |
| ENST00000409985.5:c.174_175delinsTA | ENSP00000386623.1:p.Glu59Lys | |
| ENST00000418224.7:c.174_175delinsTA | ENSP00000404492.4:p.Glu59Lys | |
| ENST00000420421.1:c.174_175delinsTA | ENSP00000391136.1:p.Glu59Lys | |
| ENST00000421722.5:n.260_261delinsTA | ||
| ENST00000424059.1:n.174_175delinsTA | ||
| ENST00000424307.5:c.132+3869_132+3870delinsTA | ENSP00000389938.1:n.132+3869_132+3870deli... | |
| ENST00000424766.5:c.174_175delinsTA | ENSP00000410082.1:p.Glu59Lys | |
| ENST00000432292.7:c.-111+3869_-111+3870delinsTA | ENSP00000398378.3:n.-111+3869_-111+3870de... | |
| ENST00000441310.6:c.174_175delinsTA | ENSP00000406490.2:p.Glu59Lys | |
| ENST00000447232.6:c.174_175delinsTA | ENSP00000401064.2:p.Glu59Lys | |
| ENST00000447734.5:c.132+3869_132+3870delinsTA | ENSP00000411151.1:n.132+3869_132+3870deli... | |
| ENST00000450931.5:c.174_175delinsTA | ENSP00000406225.1:p.Glu59Lys | |
| ENST00000618056.4:c.174_175delinsTA | ENSP00000480632.1:p.Glu59Lys | |
| ENST00000624204.3:c.-252_-251delinsTA | ENSP00000485312.1:n.-252_-251delinsTA | |
| NM_000534.4:c.174_175delinsTA , LRG_221t1:c.174_175delinsTA | NP_000525.1:p.Glu59Lys | |
| NM_001128143.1:c.174_175delinsTA | NP_001121615.1:p.Glu59Lys | |
| NM_001128144.1:c.174_175delinsTA | NP_001121616.1:p.Glu59Lys | |
| NM_001289408.1:c.-252_-251delinsTA | NP_001276337.1:n.-252_-251delinsTA | |
| NM_001289409.1:c.-111+3869_-111+3870delinsTA | NP_001276338.1:n.-111+3869_-111+3870delin... | |
| NR_110332.1:n.800_801delinsTA | ||
| XM_005246647.2:c.174_175delinsTA | XP_005246704.1:p.Glu59Lys | |
| XM_005246649.2:c.174_175delinsTA | XP_005246706.1:p.Glu59Lys | |
| XM_011511353.1:c.174_175delinsTA | XP_011509655.1:p.Glu59Lys | |
| XM_011511354.1:c.174_175delinsTA | XP_011509656.1:p.Glu59Lys | |
| XM_011511355.1:c.132+3869_132+3870delinsTA | XP_011509657.1:n.132+3869_132+3870delinsT... | |
| XM_011511357.1:c.174_175delinsTA | XP_011509659.1:p.Glu59Lys | |
| XR_922951.1:n.338_339delinsTA | ||
| NM_001321044.1:c.174_175delinsTA | NP_001307973.1:p.Glu59Lys | |
| NM_001321045.1:c.174_175delinsTA | NP_001307974.1:p.Glu59Lys | |
| NM_001321046.1:c.132+3869_132+3870delinsTA | NP_001307975.1:n.132+3869_132+3870delinsT... | |
| NM_001321047.1:c.174_175delinsTA | NP_001307976.1:p.Glu59Lys | |
| NM_001321048.1:c.174_175delinsTA | NP_001307977.1:p.Glu59Lys | |
| NM_001321049.1:c.174_175delinsTA | NP_001307978.1:p.Glu59Lys | |
| NM_001321051.1:c.174_175delinsTA | NP_001307980.1:p.Glu59Lys | |
| XM_011511356.3:c.-1150_-1149delinsTA | XP_011509658.1:n.-1150_-1149delinsTA | |
| XM_017004344.1:c.174_175delinsTA | XP_016859833.1:p.Glu59Lys | |
| XM_017004345.1:c.132+3869_132+3870delinsTA | XP_016859834.1:n.132+3869_132+3870delinsT... | |
| XM_017004346.2:c.132+3869_132+3870delinsTA | XP_016859835.1:n.132+3869_132+3870delinsT... | |
| XM_017004347.1:c.132+3869_132+3870delinsTA | XP_016859836.1:n.132+3869_132+3870delinsT... | |
| XM_017004348.1:c.174_175delinsTA | XP_016859837.1:p.Glu59Lys | |
| XM_017004349.2:c.-1150_-1149delinsTA | XP_016859838.1:n.-1150_-1149delinsTA | |
| XM_017004350.1:c.132+3869_132+3870delinsTA | XP_016859839.1:n.132+3869_132+3870delinsT... | |
| XM_024452964.1:c.174_175delinsTA | XP_024308732.1:p.Glu59Lys | |
| XM_024452965.1:c.174_175delinsTA | XP_024308733.1:p.Glu59Lys | |
| XM_024452966.1:c.174_175delinsTA | XP_024308734.1:p.Glu59Lys | |
| XM_024452967.1:c.174_175delinsTA | XP_024308735.1:p.Glu59Lys | |
| XM_024452968.1:c.-252_-251delinsTA | XP_024308736.1:n.-252_-251delinsTA | |
| XM_024452969.1:c.-252_-251delinsTA | XP_024308737.1:n.-252_-251delinsTA | |
| XR_001738779.1:n.429_430delinsTA | ||
| XR_002959307.1:n.434_435delinsTA | ||
| XR_922951.2:n.332_333delinsTA | ||
| NM_000534.5:c.174_175delinsTA MANE Select | NP_000525.1:p.Glu59Lys | |
| NM_001128143.2:c.174_175delinsTA | NP_001121615.1:p.Glu59Lys | |
| NM_001128144.2:c.174_175delinsTA | NP_001121616.1:p.Glu59Lys | |
| NM_001321044.2:c.174_175delinsTA | NP_001307973.1:p.Glu59Lys | |
| NM_001321045.2:c.174_175delinsTA | NP_001307974.1:p.Glu59Lys | |
| NM_001321046.2:c.132+3869_132+3870delinsTA | NP_001307975.1:n.132+3869_132+3870delinsT... | |
| NM_001321047.2:c.174_175delinsTA | NP_001307976.1:p.Glu59Lys | |
| NM_001321048.2:c.174_175delinsTA | NP_001307977.1:p.Glu59Lys | |
| NM_001321049.2:c.174_175delinsTA | NP_001307978.1:p.Glu59Lys | |
| NR_110332.2:n.435_436delinsTA | ||
| NM_001289408.2:c.-252_-251delinsTA | NP_001276337.1:n.-252_-251delinsTA | |
| NM_001289409.2:c.-111+3869_-111+3870delinsTA | NP_001276338.1:n.-111+3869_-111+3870delin... | |
| NM_001321051.2:c.174_175delinsTA | NP_001307980.1:p.Glu59Lys |