Canonical Allele Identifier: CA16068508
Gene: DDR2 HGNC NCBI
dbSNP:
10494373
gnomAD v2:
1:162619362 A / C
gnomAD v3:
1:162649572 A / C
gnomAD v4:
chr1-162649572-A-C
Joint Max Group AF 0.08887717 (AMR)
Genomes Max Group AF 0.08887717 (AMR)
MyVariant.info:
GRCh38 chr1:g.162649572A>C
GRCh37 chr1:g.162619362A>C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.162649572A>C , CM000663.2:g.162649572A>C GRCh38
NC_000001.10:g.162619362A>C , CM000663.1:g.162619362A>C GRCh37
NC_000001.9:g.160885986A>C NCBI36
NG_016290.1:g.22135A>C
NG_016290.2:g.23360A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367921.8:c.-191-5639A>C MANE Select ENSP00000356898.3:n.-191-5639A>C
ENST00000446985.6:c.-191-5639A>C ENSP00000400309.2:n.-191-5639A>C
ENST00000671979.1:c.-271-5639A>C ENSP00000500822.1:n.-271-5639A>C
ENST00000672207.1:n.196-5639A>C
ENST00000673239.1:n.187-5639A>C
ENST00000367921.7:c.-191-5639A>C ENSP00000356898.3:n.-191-5639A>C
ENST00000367922.7:c.-271-5639A>C ENSP00000356899.2:n.-271-5639A>C
ENST00000415555.5:c.-191-5639A>C ENSP00000391310.1:n.-191-5639A>C
ENST00000446985.5:c.-191-5639A>C ENSP00000400309.1:n.-191-5639A>C
NM_001014796.1:c.-271-5639A>C NP_001014796.1:n.-271-5639A>C
NM_006182.2:c.-191-5639A>C NP_006173.2:n.-191-5639A>C
XM_006711344.2:c.-191-5639A>C XP_006711407.1:n.-191-5639A>C
XM_011509586.1:c.-191-5639A>C XP_011507888.1:n.-191-5639A>C
XM_011509587.1:c.-271-5639A>C XP_011507889.1:n.-271-5639A>C
NM_001014796.2:c.-271-5639A>C NP_001014796.1:n.-271-5639A>C
NM_001354982.1:c.-191-5639A>C NP_001341911.1:n.-191-5639A>C
NM_001354983.1:c.-191-5639A>C NP_001341912.1:n.-191-5639A>C
NM_006182.3:c.-191-5639A>C NP_006173.2:n.-191-5639A>C
XM_011509587.2:c.-271-5639A>C XP_011507889.1:n.-271-5639A>C
XM_011509588.3:c.-191-5639A>C XP_011507890.1:n.-191-5639A>C
NM_006182.4:c.-191-5639A>C MANE Select NP_006173.2:n.-191-5639A>C
NM_001014796.3:c.-271-5639A>C NP_001014796.1:n.-271-5639A>C
NM_001354982.2:c.-191-5639A>C NP_001341911.1:n.-191-5639A>C
NM_001354983.2:c.-191-5639A>C NP_001341912.1:n.-191-5639A>C
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