Linked Data
dbSNP Id:
rs1330389988
gnomAD v2:
2-46577460-G-GGGTTCC
gnomAD v3:
2-46350321-G-GGGTTCC
gnomAD v4:
2-46350321-G-GGGTTCC
MyVariant Identifiers:
chr2:g.46577460_46577461insGGTTCC (hg19)
chr2:g.46350321_46350322insGGTTCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46350322_46350323insGTTCCG , CM000664.2:g.46350322_46350323insGTTCCG | GRCh38 |
| NC_000002.11:g.46577461_46577462insGTTCCG , CM000664.1:g.46577461_46577462insGTTCCG | GRCh37 |
| NC_000002.10:g.46430965_46430966insGTTCCG | NCBI36 |
| NG_016000.1:g.57921_57922insGTTCCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263734.5:c.217+3259_217+3260insGTTCCG MANE Select | ENSP00000263734.3:n.217+3259_217+3260insGTTCCG | |
| ENST00000263734.4:c.217+3259_217+3260insGTTCCG | ENSP00000263734.3:n.217+3259_217+3260insGTTCCG | |
| ENST00000449347.5:c.217+3259_217+3260insGTTCCG | ENSP00000406137.1:n.217+3259_217+3260insGTTCCG | |
| ENST00000475822.1:n.408+3259_408+3260insGTTCCG | ||
| NM_001430.4:c.217+3259_217+3260insGTTCCG | NP_001421.2:n.217+3259_217+3260insGTTCCG | |
| XM_011532698.1:c.256+3259_256+3260insGTTCCG | XP_011531000.1:n.256+3259_256+3260insGTTCCG | |
| XM_011532698.2:c.256+3259_256+3260insGTTCCG | XP_011531000.1:n.256+3259_256+3260insGTTCCG | |
| NM_001430.5:c.217+3259_217+3260insGTTCCG MANE Select | NP_001421.2:n.217+3259_217+3260insGTTCCG |