Linked Data
dbSNP Id:
rs1558377950
gnomAD v2:
2-31805625-G-GCGCT
gnomAD v3:
2-31580555-G-GCGCT
gnomAD v4:
2-31580555-G-GCGCT
MyVariant Identifiers:
chr2:g.31805625_31805626insCGCT (hg19)
chr2:g.31580555_31580556insCGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31580557_31580560dup , CM000664.2:g.31580557_31580560dup | GRCh38 |
| NC_000002.11:g.31805627_31805630dup , CM000664.1:g.31805627_31805630dup | GRCh37 |
| NC_000002.10:g.31659131_31659134dup | NCBI36 |
| NG_008365.1:g.5413_5416dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.281+61_281+64dup MANE Select | ENSP00000477587.1:n.281+61_281+64dup | |
| ENST00000622030.1:c.281+61_281+64dup | ENSP00000477587.1:n.281+61_281+64dup | |
| NM_000348.3:c.281+61_281+64dup | NP_000339.2:n.281+61_281+64dup | |
| XM_011533068.1:c.281+61_281+64dup | XP_011531370.1:n.281+61_281+64dup | |
| XM_011533070.1:c.27-46793_27-46790dup | XP_011531372.1:n.27-46793_27-46790dup | |
| XM_011533071.1:c.27-46793_27-46790dup | XP_011531373.1:n.27-46793_27-46790dup | |
| XM_011533072.1:c.27-46793_27-46790dup | XP_011531374.1:n.27-46793_27-46790dup | |
| XM_011533072.2:c.27-46793_27-46790dup | XP_011531374.1:n.27-46793_27-46790dup | |
| NM_000348.4:c.281+61_281+64dup MANE Select | NP_000339.2:n.281+61_281+64dup |