Canonical Allele Identifier: CA10608615

Gene: DDR2

Linked Data

• ClinVar Variation Id: 293387
• ClinVar RCV Id: RCV000295491 ; RCV001707620
• dbSNP Id: rs5778295
• gnomAD v2: 1-162750210-CT-C
• gnomAD v3: 1-162780420-CT-C
• gnomAD v4: 1-162780420-CT-C
• COSMIC: COSN20095509
• MyVariant Identifiers: chr1:g.162750224del (hg19) ; chr1:g.162750214del (hg19) ; chr1:g.162750211del (hg19) ; chr1:g.162780434del (hg38) ; chr1:g.162780424del (hg38) ; chr1:g.162780421del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.162780434del , CM000663.2:g.162780434del	GRCh38
NC_000001.10:g.162750224del , CM000663.1:g.162750224del	GRCh37
NC_000001.9:g.161016848del	NCBI36
NG_016290.1:g.152997del
NG_016290.2:g.154222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367921.8:c.*188del MANE Select	ENSP00000356898.3:n.*188del
ENST00000367922.7:c.*188del	ENSP00000356899.2:n.*188del
NM_001014796.1:c.*188del	NP_001014796.1:n.*188del
NM_006182.2:c.*188del	NP_006173.2:n.*188del
XM_006711344.2:c.*188del	XP_006711407.1:n.*188del
XM_011509586.1:c.*188del	XP_011507888.1:n.*188del
XM_011509587.1:c.*188del	XP_011507889.1:n.*188del
NM_001014796.2:c.*188del	NP_001014796.1:n.*188del
NM_001354982.1:c.*188del	NP_001341911.1:n.*188del
NM_001354983.1:c.*188del	NP_001341912.1:n.*188del
NM_006182.3:c.*188del	NP_006173.2:n.*188del
XM_011509587.2:c.*188del	XP_011507889.1:n.*188del
NM_006182.4:c.*188del MANE Select	NP_006173.2:n.*188del
NM_001014796.3:c.*188del	NP_001014796.1:n.*188del
NM_001354982.2:c.*188del	NP_001341911.1:n.*188del
NM_001354983.2:c.*188del	NP_001341912.1:n.*188del