Linked Data
dbSNP Id:
rs778404272
gnomAD v3:
2-214980320-A-ATTCC
gnomAD v4:
2-214980320-A-ATTCC
MyVariant Identifiers:
chr2:g.215845044_215845045insTTCC (hg19)
chr2:g.214980320_214980321insTTCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214980320_214980321insTTCC , CM000664.2:g.214980320_214980321insTTCC | GRCh38 |
| NC_000002.11:g.215845044_215845045insTTCC , CM000664.1:g.215845044_215845045insTTCC | GRCh37 |
| NC_000002.10:g.215553289_215553290insTTCC | NCBI36 |
| NG_007074.1:g.163107_163108insGGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.4740+162_4740+163insGGAA MANE Select | ENSP00000272895.7:n.4740+162_4740+163insGGAA | |
| ENST00000272895.11:c.4740+162_4740+163insGGAA | ENSP00000272895.7:n.4740+162_4740+163insGGAA | |
| ENST00000389661.4:c.3786+162_3786+163insGGAA | ENSP00000374312.4:n.3786+162_3786+163insGGAA | |
| NM_015657.3:c.3786+162_3786+163insGGAA | NP_056472.2:n.3786+162_3786+163insGGAA | |
| NM_173076.2:c.4740+162_4740+163insGGAA | NP_775099.2:n.4740+162_4740+163insGGAA | |
| NR_103740.1:n.5040+162_5040+163insGGAA | ||
| XM_011510951.1:c.4749+162_4749+163insGGAA | XP_011509253.1:n.4749+162_4749+163insGGAA | |
| XM_011510952.1:c.4749+162_4749+163insGGAA | XP_011509254.1:n.4749+162_4749+163insGGAA | |
| XM_011510951.2:c.4749+162_4749+163insGGAA | XP_011509253.1:n.4749+162_4749+163insGGAA | |
| NM_173076.3:c.4740+162_4740+163insGGAA MANE Select | NP_775099.2:n.4740+162_4740+163insGGAA | |
| NR_103740.2:n.5238+162_5238+163insGGAA | ||
| NM_015657.4:c.3786+162_3786+163insGGAA | NP_056472.2:n.3786+162_3786+163insGGAA |