Linked Data
ClinVar Variation Id:
1150181
ClinVar RCV Id:
RCV001490695
dbSNP Id:
rs2105025628
MyVariant Identifiers:
chr2:g.44145240A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918101A>G , CM000664.2:g.43918101A>G | GRCh38 |
| NC_000002.11:g.44145240A>G , CM000664.1:g.44145240A>G | GRCh37 |
| NC_000002.10:g.43998744A>G | NCBI36 |
| NG_008247.1:g.82905T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.624T>C | ||
| ENST00000682295.1:c.303+155T>C | ENSP00000507499.1:n.303+155T>C | |
| ENST00000682303.1:c.*2858T>C | ENSP00000508325.1:n.*2858T>C | |
| ENST00000682308.1:c.3072T>C | ENSP00000507056.1:p.Asn1024= | |
| ENST00000682480.1:c.3090T>C | ENSP00000508344.1:p.Asn1030= | |
| ENST00000682546.1:c.3069T>C | ENSP00000508188.1:p.Asn1023= | |
| ENST00000682585.1:c.3072T>C | ENSP00000506885.1:p.Asn1024= | |
| ENST00000682595.1:n.3656T>C | ||
| ENST00000682607.1:c.1490T>C | ||
| ENST00000682779.1:c.3063T>C | ENSP00000507947.1:p.Asn1021= | |
| ENST00000682845.1:n.2174T>C | ||
| ENST00000682885.1:c.3027T>C | ENSP00000508036.1:p.Asn1009= | |
| ENST00000682933.1:n.3146T>C | ||
| ENST00000683072.1:n.3656T>C | ||
| ENST00000683080.1:n.691T>C | ||
| ENST00000683125.1:c.3180T>C | ENSP00000507939.1:p.Asn1060= | |
| ENST00000683213.1:c.3075T>C | ENSP00000507751.1:p.Asn1025= | |
| ENST00000683220.1:c.3102T>C | ENSP00000507151.1:p.Asn1034= | |
| ENST00000683329.1:n.3875T>C | ||
| ENST00000683346.1:c.*2947T>C | ENSP00000507458.1:n.*2947T>C | |
| ENST00000683409.1:n.1679T>C | ||
| ENST00000683459.1:n.3659T>C | ||
| ENST00000683590.1:c.2897-5543T>C | ENSP00000506820.1:n.2897-5543T>C | |
| ENST00000683623.1:c.2979T>C | ENSP00000507702.1:p.Asn993= | |
| ENST00000683645.1:n.3623T>C | ||
| ENST00000683796.1:c.*2944T>C | ENSP00000508221.1:n.*2944T>C | |
| ENST00000683802.1:n.5997T>C | ||
| ENST00000683833.1:c.3063T>C | ENSP00000506852.1:p.Asn1021= | |
| ENST00000683994.1:c.3072T>C | ENSP00000507181.1:p.Asn1024= | |
| ENST00000684290.1:c.*608T>C | ENSP00000507243.1:n.*608T>C | |
| ENST00000684306.1:c.*2985T>C | ENSP00000508384.1:n.*2985T>C | |
| ENST00000684341.1:n.3092T>C | ||
| ENST00000684383.1:c.*2710T>C | ENSP00000506863.1:n.*2710T>C | |
| ENST00000684619.1:c.*2944T>C | ENSP00000508088.1:n.*2944T>C | |
| ENST00000684705.1:n.193T>C | ||
| ENST00000684743.1:n.4103T>C | ||
| ENST00000260665.12:c.3072T>C MANE Select | ENSP00000260665.7:p.Asn1024= | |
| ENST00000260665.11:c.3072T>C | ENSP00000260665.7:p.Asn1024= | |
| NM_133259.3:c.3072T>C | NP_573566.2:p.Asn1024= | |
| XM_006711915.2:c.2994T>C | XP_006711978.1:p.Asn998= | |
| XM_006711916.2:c.3072T>C | XP_006711979.1:p.Asn1024= | |
| XM_011532473.1:c.3072T>C | XP_011530775.1:p.Asn1024= | |
| XM_011532474.1:c.3072T>C | XP_011530776.1:p.Asn1024= | |
| XM_006711916.3:c.3072T>C | XP_006711979.1:p.Asn1024= | |
| XM_017003117.1:c.2994T>C | XP_016858606.1:p.Asn998= | |
| XR_002958896.1:n.3114T>C | ||
| NM_133259.4:c.3072T>C MANE Select | NP_573566.2:p.Asn1024= |