Linked Data
dbSNP Id:
rs1426220989
gnomAD v2:
2-25383957-C-CCTACAAGAAGGG
gnomAD v4:
2-25161088-C-CCTACAAGAAGGG
MyVariant Identifiers:
chr2:g.25383957_25383958insCTACAAGAAGGG (hg19)
chr2:g.25161088_25161089insCTACAAGAAGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25161089_25161090insTACAAGAAGGGC , CM000664.2:g.25161089_25161090insTACAAGAAGGGC | GRCh38 |
| NC_000002.11:g.25383958_25383959insTACAAGAAGGGC , CM000664.1:g.25383958_25383959insTACAAGAAGGGC | GRCh37 |
| NC_000002.10:g.25237462_25237463insTACAAGAAGGGC | NCBI36 |
| NG_008997.1:g.12602_12603insCCCTTCTTGTAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395826.7:c.796_797insCCCTTCTTGTAG MANE Select | ENSP00000379170.2:p.Lys265_Gly266insAlaLe... | |
| ENST00000264708.7:c.796_797insCCCTTCTTGTAG | ENSP00000264708.3:p.Lys265_Gly266insAlaLe... | |
| ENST00000380794.5:c.796_797insCCCTTCTTGTAG | ENSP00000370171.1:p.Lys265_Gly266insAlaLe... | |
| ENST00000395826.6:c.796_797insCCCTTCTTGTAG | ENSP00000379170.2:p.Lys265_Gly266insAlaLe... | |
| ENST00000405623.5:c.796_797insCCCTTCTTGTAG | ENSP00000384092.1:p.Lys265_Gly266insAlaLe... | |
| NM_000939.2:c.796_797insCCCTTCTTGTAG | NP_000930.1:p.Lys265_Gly266insAlaLeuLeuVa... | |
| NM_001035256.1:c.796_797insCCCTTCTTGTAG | NP_001030333.1:p.Lys265_Gly266insAlaLeuLe... | |
| XM_011532917.1:c.796_797insCCCTTCTTGTAG | XP_011531219.1:p.Lys265_Gly266insAlaLeuLe... | |
| NM_000939.3:c.796_797insCCCTTCTTGTAG | NP_000930.1:p.Lys265_Gly266insAlaLeuLeuVa... | |
| NM_001035256.2:c.796_797insCCCTTCTTGTAG | NP_001030333.1:p.Lys265_Gly266insAlaLeuLe... | |
| NM_001319204.1:c.796_797insCCCTTCTTGTAG | NP_001306133.1:p.Lys265_Gly266insAlaLeuLe... | |
| NM_001319205.1:c.796_797insCCCTTCTTGTAG | NP_001306134.1:p.Lys265_Gly266insAlaLeuLe... | |
| NM_000939.4:c.796_797insCCCTTCTTGTAG MANE Select | NP_000930.1:p.Lys265_Gly266insAlaLeuLeuVa... | |
| NM_001319204.2:c.796_797insCCCTTCTTGTAG | NP_001306133.1:p.Lys265_Gly266insAlaLeuLe... | |
| NM_001319205.2:c.796_797insCCCTTCTTGTAG | NP_001306134.1:p.Lys265_Gly266insAlaLeuLe... | |
| NM_001035256.3:c.796_797insCCCTTCTTGTAG | NP_001030333.1:p.Lys265_Gly266insAlaLeuLe... |