Linked Data
dbSNP Id:
rs769022521
gnomAD v2:
2-44145164-C-CTTTTTTTTT
gnomAD v4:
2-43918025-C-CTTTTTTTTT
MyVariant Identifiers:
chr2:g.44145165_44145166insTTTTTTTTT (hg19)
chr2:g.43918026_43918027insTTTTTTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918033_43918034insTTTTTTTTT , CM000664.2:g.43918033_43918034insTTTTTTTTT | GRCh38 |
| NC_000002.11:g.44145172_44145173insTTTTTTTTT , CM000664.1:g.44145172_44145173insTTTTTTTTT | GRCh37 |
| NC_000002.10:g.43998676_43998677insTTTTTTTTT | NCBI36 |
| NG_008247.1:g.82980_82981insAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681993.1:n.699_700insAAAAAAAAA | ||
| ENST00000682295.1:c.303+230_303+231insAAAAAAAAA | ENSP00000507499.1:n.303+230_303+231insAAA... | |
| ENST00000682303.1:c.*2933_*2934insAAAAAAAAA | ENSP00000508325.1:n.*2933_*2934insAAAAAAA... | |
| ENST00000682308.1:c.3147_3148insAAAAAAAAA | ENSP00000507056.1:p.Lys1049_Gly1050insLys... | |
| ENST00000682480.1:c.3165_3166insAAAAAAAAA | ENSP00000508344.1:p.Lys1055_Gly1056insLys... | |
| ENST00000682546.1:c.3144_3145insAAAAAAAAA | ENSP00000508188.1:p.Lys1048_Gly1049insLys... | |
| ENST00000682585.1:c.3147_3148insAAAAAAAAA | ENSP00000506885.1:p.Lys1049_Gly1050insLys... | |
| ENST00000682595.1:n.3731_3732insAAAAAAAAA | ||
| ENST00000682607.1:c.1565_1566insAAAAAAAAA | ||
| ENST00000682779.1:c.3138_3139insAAAAAAAAA | ENSP00000507947.1:p.Lys1046_Gly1047insLys... | |
| ENST00000682845.1:n.2249_2250insAAAAAAAAA | ||
| ENST00000682885.1:c.3102_3103insAAAAAAAAA | ENSP00000508036.1:p.Lys1034_Gly1035insLys... | |
| ENST00000682933.1:n.3221_3222insAAAAAAAAA | ||
| ENST00000683072.1:n.3731_3732insAAAAAAAAA | ||
| ENST00000683080.1:n.766_767insAAAAAAAAA | ||
| ENST00000683125.1:c.3255_3256insAAAAAAAAA | ENSP00000507939.1:p.Lys1085_Gly1086insLys... | |
| ENST00000683213.1:c.3150_3151insAAAAAAAAA | ENSP00000507751.1:p.Lys1050_Gly1051insLys... | |
| ENST00000683220.1:c.3177_3178insAAAAAAAAA | ENSP00000507151.1:p.Lys1059_Gly1060insLys... | |
| ENST00000683329.1:n.3950_3951insAAAAAAAAA | ||
| ENST00000683346.1:c.*3022_*3023insAAAAAAAAA | ENSP00000507458.1:n.*3022_*3023insAAAAAAA... | |
| ENST00000683409.1:n.1754_1755insAAAAAAAAA | ||
| ENST00000683459.1:n.3734_3735insAAAAAAAAA | ||
| ENST00000683590.1:c.2897-5468_2897-5467insAAAAAAAAA | ENSP00000506820.1:n.2897-5468_2897-5467in... | |
| ENST00000683623.1:c.3054_3055insAAAAAAAAA | ENSP00000507702.1:p.Lys1018_Gly1019insLys... | |
| ENST00000683645.1:n.3698_3699insAAAAAAAAA | ||
| ENST00000683796.1:c.*3019_*3020insAAAAAAAAA | ENSP00000508221.1:n.*3019_*3020insAAAAAAA... | |
| ENST00000683802.1:n.6072_6073insAAAAAAAAA | ||
| ENST00000683833.1:c.3138_3139insAAAAAAAAA | ENSP00000506852.1:p.Lys1046_Gly1047insLys... | |
| ENST00000683994.1:c.3147_3148insAAAAAAAAA | ENSP00000507181.1:p.Lys1049_Gly1050insLys... | |
| ENST00000684290.1:c.*683_*684insAAAAAAAAA | ENSP00000507243.1:n.*683_*684insAAAAAAAAA... | |
| ENST00000684306.1:c.*3060_*3061insAAAAAAAAA | ENSP00000508384.1:n.*3060_*3061insAAAAAAA... | |
| ENST00000684341.1:n.3167_3168insAAAAAAAAA | ||
| ENST00000684383.1:c.*2785_*2786insAAAAAAAAA | ENSP00000506863.1:n.*2785_*2786insAAAAAAA... | |
| ENST00000684619.1:c.*3019_*3020insAAAAAAAAA | ENSP00000508088.1:n.*3019_*3020insAAAAAAA... | |
| ENST00000684705.1:n.268_269insAAAAAAAAA | ||
| ENST00000684743.1:n.4178_4179insAAAAAAAAA | ||
| ENST00000260665.12:c.3147_3148insAAAAAAAAA MANE Select | ENSP00000260665.7:p.Lys1049_Gly1050insLys... | |
| ENST00000260665.11:c.3147_3148insAAAAAAAAA | ENSP00000260665.7:p.Lys1049_Gly1050insLys... | |
| NM_133259.3:c.3147_3148insAAAAAAAAA | NP_573566.2:p.Lys1049_Gly1050insLysLysLys... | |
| XM_006711915.2:c.3069_3070insAAAAAAAAA | XP_006711978.1:p.Lys1023_Gly1024insLysLys... | |
| XM_006711916.2:c.3147_3147+1insAAAAAAAAA | XP_006711979.1:p.Lys1049_Arg1050insLysLys... | |
| XM_011532473.1:c.3147_3148insAAAAAAAAA | XP_011530775.1:p.Lys1049_Gly1050insLysLys... | |
| XM_011532474.1:c.3147_3148insAAAAAAAAA | XP_011530776.1:p.Lys1049_Gly1050insLysLys... | |
| XM_006711916.3:c.3147_3147+1insAAAAAAAAA | XP_006711979.1:p.Lys1049_Arg1050insLysLys... | |
| XM_017003117.1:c.3069_3070insAAAAAAAAA | XP_016858606.1:p.Lys1023_Gly1024insLysLys... | |
| XR_002958896.1:n.3189_3190insAAAAAAAAA | ||
| NM_133259.4:c.3147_3148insAAAAAAAAA MANE Select | NP_573566.2:p.Lys1049_Gly1050insLysLysLys... |