Linked Data
dbSNP Id:
rs1199249568
gnomAD v2:
2-31805654-G-GCGCT
gnomAD v3:
2-31580584-G-GCGCT
gnomAD v4:
2-31580584-G-GCGCT
MyVariant Identifiers:
chr2:g.31805654_31805655insCGCT (hg19)
chr2:g.31580584_31580585insCGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31580585_31580588dup , CM000664.2:g.31580585_31580588dup | GRCh38 |
| NC_000002.11:g.31805655_31805658dup , CM000664.1:g.31805655_31805658dup | GRCh37 |
| NC_000002.10:g.31659159_31659162dup | NCBI36 |
| NG_008365.1:g.5384_5387dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.281+32_281+35dup MANE Select | ENSP00000477587.1:n.281+32_281+35dup | |
| ENST00000622030.1:c.281+32_281+35dup | ENSP00000477587.1:n.281+32_281+35dup | |
| NM_000348.3:c.281+32_281+35dup | NP_000339.2:n.281+32_281+35dup | |
| XM_011533068.1:c.281+32_281+35dup | XP_011531370.1:n.281+32_281+35dup | |
| XM_011533070.1:c.27-46822_27-46819dup | XP_011531372.1:n.27-46822_27-46819dup | |
| XM_011533071.1:c.27-46822_27-46819dup | XP_011531373.1:n.27-46822_27-46819dup | |
| XM_011533072.1:c.27-46822_27-46819dup | XP_011531374.1:n.27-46822_27-46819dup | |
| XM_011533072.2:c.27-46822_27-46819dup | XP_011531374.1:n.27-46822_27-46819dup | |
| NM_000348.4:c.281+32_281+35dup MANE Select | NP_000339.2:n.281+32_281+35dup |