Linked Data
dbSNP Id:
rs768676290
ExAC:
18:29122844 G / T
gnomAD v2:
18-29122844-G-T
gnomAD v3:
18-31542881-G-T
gnomAD v4:
18-31542881-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31542881G>T , CM000680.2:g.31542881G>T | GRCh38 |
| NC_000018.9:g.29122844G>T , CM000680.1:g.29122844G>T | GRCh37 |
| NC_000018.8:g.27376842G>T | NCBI36 |
| NG_007072.3:g.49640G>T , LRG_397:g.49640G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.2334+29G>T (DSG2) MANE Select | ENSP00000261590.8:n.2334+29G>T | |
| ENST00000261590.12:c.2334+29G>T (DSG2) | ENSP00000261590.8:n.2334+29G>T | |
| NM_001943.3:c.2334+29G>T , LRG_397t1:c.2334+29G>T (DSG2) | NP_001934.2:n.2334+29G>T | |
| NR_045216.1:n.1810+221C>A (DSG2-AS1) | ||
| NM_001943.4:c.2334+29G>T (DSG2) | NP_001934.2:n.2334+29G>T | |
| XM_024451095.1:c.1800+29G>T (DSG2) | XP_024306863.1:n.1800+29G>T | |
| NM_001943.5:c.2334+29G>T (DSG2) MANE Select | NP_001934.2:n.2334+29G>T |