Linked Data
ClinVar Variation Id:
724766
ClinVar RCV Id:
RCV000898731
dbSNP Id:
rs561120047
ExAC:
11:118978662 C / A
gnomAD v2:
11-118978662-C-A
gnomAD v3:
11-119107952-C-A
gnomAD v4:
11-119107952-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119107952C>A , CM000673.2:g.119107952C>A | GRCh38 |
| NC_000011.9:g.118978662C>A , CM000673.1:g.118978662C>A | GRCh37 |
| NC_000011.8:g.118483872C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648610.2:c.211C>A (C2CD2L) MANE Select | ENSP00000497391.1:p.Arg71= | |
| ENST00000336702.7:c.211C>A (C2CD2L) | ENSP00000338885.3:p.Arg71= | |
| ENST00000409993.6:c.-1173G>T (DPAGT1) | ENSP00000386597.2:n.-1173G>T | |
| NM_001290474.1:c.211C>A (C2CD2L) | NP_001277403.1:p.Arg71= | |
| NM_014807.4:c.211C>A (C2CD2L) | NP_055622.3:p.Arg71= | |
| XM_005271741.2:c.211C>A (C2CD2L) | XP_005271798.1:p.Arg71= | |
| XM_005271742.2:c.211C>A (C2CD2L) | XP_005271799.1:p.Arg71= | |
| XM_006718948.2:c.211C>A (C2CD2L) | XP_006719011.1:p.Arg71= | |
| XM_006718948.4:c.211C>A (C2CD2L) | XP_006719011.1:p.Arg71= | |
| XM_017018625.2:c.211C>A (C2CD2L) | XP_016874114.1:p.Arg71= | |
| XM_017018626.2:c.211C>A (C2CD2L) | XP_016874115.1:p.Arg71= | |
| XM_017018627.2:c.211C>A (C2CD2L) | XP_016874116.1:p.Arg71= | |
| XR_001748053.2:n.1201C>A (C2CD2L) | ||
| XR_001748054.2:n.1201C>A (C2CD2L) | ||
| NM_001290474.2:c.211C>A (C2CD2L) MANE Select | NP_001277403.1:p.Arg71= | |
| NM_014807.5:c.211C>A (C2CD2L) | NP_055622.3:p.Arg71= | |
| NM_001382611.1:c.211C>A (C2CD2L) | NP_001369540.1:p.Arg71= | |
| NM_001382612.1:c.211C>A (C2CD2L) | NP_001369541.1:p.Arg71= | |
| NM_001382613.1:c.211C>A (C2CD2L) | NP_001369542.1:p.Arg71= |