Linked Data
dbSNP Id:
rs1014157740
gnomAD v2:
5-74017778-T-TAA
gnomAD v3:
5-74721953-T-TAA
gnomAD v4:
5-74721953-T-TAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74721957_74721958dup , CM000667.2:g.74721957_74721958dup | GRCh38 |
| NC_000005.9:g.74017782_74017783dup , CM000667.1:g.74017782_74017783dup | GRCh37 |
| NC_000005.8:g.74053538_74053539dup | NCBI36 |
| NG_009770.1:g.41814_41815dup | |
| NG_011531.1:g.50263_50264dup | |
| NG_009770.2:g.86935_86936dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296805.8:c.2212-172_2212-171dup (GFM2) MANE Select | ENSP00000296805.3:n.2212-172_2212-171dup | |
| ENST00000296805.7:c.2212-172_2212-171dup (GFM2) | ENSP00000296805.3:n.2212-172_2212-171dup | |
| ENST00000345239.6:c.2071-172_2071-171dup (GFM2) | ENSP00000296804.3:n.2071-172_2071-171dup | |
| ENST00000503312.5:c.609-512_609-511dup (HEXB) | ||
| ENST00000505859.1:c.256-342_256-341dup (HEXB) | ||
| ENST00000509430.5:c.2212-172_2212-171dup (GFM2) | ENSP00000427004.1:n.2212-172_2212-171dup | |
| ENST00000513867.1:n.381-342_381-341dup (HEXB) | ||
| ENST00000515125.5:n.615-172_615-171dup (GFM2) | ||
| NM_001281302.1:c.2308-172_2308-171dup (GFM2) | NP_001268231.1:n.2308-172_2308-171dup | |
| NM_032380.4:c.2212-172_2212-171dup (GFM2) | NP_115756.2:n.2212-172_2212-171dup | |
| NM_170691.2:c.2071-172_2071-171dup (GFM2) | NP_733792.1:n.2071-172_2071-171dup | |
| NR_104006.1:n.2531-172_2531-171dup (GFM2) | ||
| XM_006714721.2:c.2077-172_2077-171dup (GFM2) | XP_006714784.1:n.2077-172_2077-171dup | |
| XM_011543690.1:c.2212-172_2212-171dup (GFM2) | XP_011541992.1:n.2212-172_2212-171dup | |
| XM_017009986.1:c.2212-172_2212-171dup (GFM2) | XP_016865475.1:n.2212-172_2212-171dup | |
| XR_002956185.1:n.3498-172_3498-171dup (GFM2) | ||
| NM_032380.5:c.2212-172_2212-171dup (GFM2) MANE Select | NP_115756.2:n.2212-172_2212-171dup | |
| NM_001281302.2:c.2308-172_2308-171dup (GFM2) | NP_001268231.1:n.2308-172_2308-171dup | |
| NM_170691.3:c.2071-172_2071-171dup (GFM2) | NP_733792.1:n.2071-172_2071-171dup | |
| NR_104006.2:n.2277-172_2277-171dup (GFM2) |