Linked Data
ClinVar Variation Id:
2913105
ClinVar RCV Id:
RCV003598725
dbSNP Id:
rs1693706854
gnomAD v2:
2-172291230-C-T
gnomAD v4:
2-171434720-C-T
MyVariant Identifiers:
chr2:g.172291230_172291231delinsTG (hg19)
chr2:g.171434720_171434721delinsTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171434720C>T , CM000664.2:g.171434720C>T | GRCh38 |
| NC_000002.11:g.172291230C>T , CM000664.1:g.172291230C>T | GRCh37 |
| NC_000002.10:g.171999476C>T | NCBI36 |
| NG_013038.1:g.5470C>T | |
| NG_013038.2:g.5470C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612742.5:c.-59G>A (METTL8) | ENSP00000480056.1:n.-59G>A | |
| ENST00000375255.8:c.126+17C>T (DCAF17) MANE Select | ENSP00000364404.3:n.126+17C>T | |
| ENST00000375255.7:c.126+17C>T (DCAF17) | ENSP00000364404.3:n.126+17C>T | |
| ENST00000436317.1:c.40+17C>T (DCAF17) | ||
| ENST00000442778.5:c.-59G>A (METTL8) | ENSP00000404646.1:n.-59G>A | |
| ENST00000453846.5:c.-183G>A (METTL8) | ENSP00000411589.1:n.-183G>A | |
| ENST00000460188.5:n.69G>A (METTL8) | ||
| ENST00000462821.1:n.83G>A (METTL8) | ||
| ENST00000468592.5:n.55-363C>T (DCAF17) | ||
| ENST00000490217.5:n.19C>T (DCAF17) | ||
| ENST00000495925.5:n.47+17C>T (DCAF17) | ||
| ENST00000539783.5:c.126+17C>T (DCAF17) | ENSP00000442238.1:n.126+17C>T | |
| ENST00000612742.4:c.-59G>A (METTL8) | ENSP00000480056.1:n.-59G>A | |
| NM_001164821.1:c.126+17C>T (DCAF17) | NP_001158293.1:n.126+17C>T | |
| NM_024770.3:c.-59G>A (METTL8) | NP_079046.2:n.-59G>A | |
| NM_025000.3:c.126+17C>T (DCAF17) | NP_079276.2:n.126+17C>T | |
| NR_028482.1:n.453+17C>T (DCAF17) | ||
| XM_006712764.2:c.-39G>A (METTL8) | XP_006712827.1:n.-39G>A | |
| XM_006712766.2:c.126+17C>T (DCAF17) | XP_006712829.1:n.126+17C>T | |
| XM_006712767.1:c.-135-363C>T (DCAF17) | XP_006712830.1:n.-135-363C>T | |
| XM_006712768.1:c.-413C>T (DCAF17) | XP_006712831.1:n.-413C>T | |
| XM_006712772.2:c.126+17C>T (DCAF17) | XP_006712835.1:n.126+17C>T | |
| XM_011511881.1:c.126+17C>T (DCAF17) | XP_011510183.1:n.126+17C>T | |
| XM_011511882.1:c.126+17C>T (DCAF17) | XP_011510184.1:n.126+17C>T | |
| XM_011511883.1:c.126+17C>T (DCAF17) | XP_011510185.1:n.126+17C>T | |
| XM_011511884.1:c.126+17C>T (DCAF17) | XP_011510186.1:n.126+17C>T | |
| XM_011511885.1:c.126+17C>T (DCAF17) | XP_011510187.1:n.126+17C>T | |
| XR_427113.2:n.448+17C>T (DCAF17) | ||
| XR_923029.1:n.448+17C>T (DCAF17) | ||
| XR_923030.1:n.448+17C>T (DCAF17) | ||
| NM_001321157.1:c.-39G>A (METTL8) | NP_001308086.1:n.-39G>A | |
| NM_001321158.1:c.-39G>A (METTL8) | NP_001308087.1:n.-39G>A | |
| NM_001321161.1:c.-39G>A (METTL8) | NP_001308090.1:n.-39G>A | |
| NM_024770.4:c.-59G>A (METTL8) | NP_079046.2:n.-59G>A | |
| NR_135568.1:n.84G>A (METTL8) | ||
| XM_011511875.3:c.-39G>A (METTL8) | XP_011510177.1:n.-39G>A | |
| XM_017004984.2:c.-39G>A (METTL8) | XP_016860473.1:n.-39G>A | |
| XM_017004986.2:c.-59G>A (METTL8) | XP_016860475.1:n.-59G>A | |
| XM_017004987.2:c.-39G>A (METTL8) | XP_016860476.1:n.-39G>A | |
| XM_017004995.1:c.126+17C>T (DCAF17) | XP_016860484.1:n.126+17C>T | |
| XM_017004996.1:c.126+17C>T (DCAF17) | XP_016860485.1:n.126+17C>T | |
| XM_017004997.1:c.126+17C>T (DCAF17) | XP_016860486.1:n.126+17C>T | |
| XM_017004998.1:c.-904-363C>T (DCAF17) | XP_016860487.1:n.-904-363C>T | |
| XM_017004999.1:c.126+17C>T (DCAF17) | XP_016860488.1:n.126+17C>T | |
| XM_017005000.1:c.126+17C>T (DCAF17) | XP_016860489.1:n.126+17C>T | |
| XM_017005001.2:c.126+17C>T (DCAF17) | XP_016860490.1:n.126+17C>T | |
| XM_017005002.1:c.-670-363C>T (DCAF17) | XP_016860491.1:n.-670-363C>T | |
| XR_001738955.1:n.61G>A (METTL8) | ||
| XR_001738961.1:n.448+17C>T (DCAF17) | ||
| XR_002959340.1:n.62G>A (METTL8) | ||
| XR_002959341.1:n.62G>A (METTL8) | ||
| XR_923027.3:n.61G>A (METTL8) | ||
| XR_923028.3:n.61G>A (METTL8) | ||
| NM_025000.4:c.126+17C>T (DCAF17) MANE Select | NP_079276.2:n.126+17C>T | |
| NM_001321157.2:c.-39G>A (METTL8) | NP_001308086.1:n.-39G>A | |
| NM_001321158.2:c.-39G>A (METTL8) | NP_001308087.1:n.-39G>A | |
| NM_001321161.2:c.-39G>A (METTL8) | NP_001308090.1:n.-39G>A | |
| NR_028482.2:n.478+17C>T (DCAF17) | ||
| NR_135568.2:n.53G>A (METTL8) | ||
| NM_001164821.2:c.126+17C>T (DCAF17) | NP_001158293.1:n.126+17C>T | |
| NM_024770.5:c.-59G>A (METTL8) | NP_079046.2:n.-59G>A |