Linked Data
dbSNP Id:
rs587779128
MyVariant Identifiers:
chr2:g.47703523_47703525delinsGCC (hg19)
chr2:g.47476384_47476386delinsGCC (hg38)
PubMed:
PMID:10077621
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47476384_47476386delinsGCC , CM000664.2:g.47476384_47476386delinsGCC | GRCh38 |
| NC_000002.11:g.47703523_47703525delinsGCC , CM000664.1:g.47703523_47703525delinsGCC | GRCh37 |
| NC_000002.10:g.47557027_47557029delinsGCC | NCBI36 |
| NG_007110.2:g.78261_78263delinsGCC , LRG_218:g.78261_78263delinsGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2023_2025delinsGCC | ENSP00000495641.2:p.Lys675Ala | |
| ENST00000233146.7:c.2023_2025delinsGCC MANE Select | ENSP00000233146.2:p.Lys675Ala | |
| ENST00000543555.6:c.1825_1827delinsGCC | ENSP00000442697.1:p.Lys609Ala | |
| ENST00000644092.1:c.*323_*325delinsGCC | ENSP00000496351.1:n.*323_*325delinsGCC | |
| ENST00000645339.1:c.2023_2025delinsGCC | ENSP00000496441.1:p.Lys675Ala | |
| ENST00000645506.1:c.2023_2025delinsGCC | ENSP00000495455.1:p.Lys675Ala | |
| ENST00000646415.1:c.2023_2025delinsGCC | ENSP00000495543.1:p.Lys675Ala | |
| ENST00000233146.6:c.2023_2025delinsGCC | ENSP00000233146.2:p.Lys675Ala | |
| ENST00000406134.5:c.2023_2025delinsGCC | ENSP00000384199.1:p.Lys675Ala | |
| ENST00000543555.5:c.1825_1827delinsGCC | ENSP00000442697.1:p.Lys609Ala | |
| ENST00000610696.4:c.*419_*421delinsGCC | ENSP00000483159.1:n.*419_*421delinsGCC | |
| ENST00000613514.4:c.*563_*565delinsGCC | ENSP00000484137.1:n.*563_*565delinsGCC | |
| ENST00000617333.3:c.*789_*791delinsGCC | ENSP00000482468.1:n.*789_*791delinsGCC | |
| ENST00000617938.4:c.*995_*997delinsGCC | ENSP00000481158.1:n.*995_*997delinsGCC | |
| ENST00000621359.2:c.2023_2025delinsGCC | ENSP00000481416.1:p.Lys675Ala | |
| NM_000251.2:c.2023_2025delinsGCC , LRG_218t1:c.2023_2025delinsGCC | NP_000242.1:p.Lys675Ala | |
| NM_001258281.1:c.1825_1827delinsGCC | NP_001245210.1:p.Lys609Ala | |
| XM_005264332.2:c.2023_2025delinsGCC | XP_005264389.2:p.Lys675Ala | |
| XM_011532867.1:c.2023_2025delinsGCC | XP_011531169.1:p.Lys675Ala | |
| XR_939685.1:n.2095_2097delinsGCC | ||
| XM_005264332.4:c.2023_2025delinsGCC | XP_005264389.2:p.Lys675Ala | |
| XM_011532867.2:c.2023_2025delinsGCC | XP_011531169.1:p.Lys675Ala | |
| XR_001738747.2:n.2085_2087delinsGCC | ||
| XR_939685.2:n.2085_2087delinsGCC | ||
| NM_000251.3:c.2023_2025delinsGCC MANE Select | NP_000242.1:p.Lys675Ala |