Canonical Allele Identifier: CA122125

Gene: DDR2

Linked Data

• ClinVar Variation Id: 12315
• ClinVar RCV Id: RCV000013108
• dbSNP Id: rs121964865
• MyVariant Identifiers: chr1:g.162746015C>T (hg19) ; chr1:g.162776225C>T (hg38)
• PubMed: PMID:19110212 ; PMID:20223752

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.162776225C>T , CM000663.2:g.162776225C>T	GRCh38
NC_000001.10:g.162746015C>T , CM000663.1:g.162746015C>T	GRCh37
NC_000001.9:g.161012639C>T	NCBI36
NG_016290.1:g.148788C>T
NG_016290.2:g.150013C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367921.8:c.2138C>T MANE Select	ENSP00000356898.3:p.Thr713Ile
ENST00000446985.6:c.2138C>T	ENSP00000400309.2:p.Thr713Ile
ENST00000367921.7:c.2138C>T	ENSP00000356898.3:p.Thr713Ile
ENST00000367922.7:c.2138C>T	ENSP00000356899.2:p.Thr713Ile
NM_001014796.1:c.2138C>T	NP_001014796.1:p.Thr713Ile
NM_006182.2:c.2138C>T	NP_006173.2:p.Thr713Ile
XM_006711344.2:c.2138C>T	XP_006711407.1:p.Thr713Ile
XM_011509586.1:c.2138C>T	XP_011507888.1:p.Thr713Ile
XM_011509587.1:c.2138C>T	XP_011507889.1:p.Thr713Ile
NM_001014796.2:c.2138C>T	NP_001014796.1:p.Thr713Ile
NM_001354982.1:c.2138C>T	NP_001341911.1:p.Thr713Ile
NM_001354983.1:c.2138C>T	NP_001341912.1:p.Thr713Ile
NM_006182.3:c.2138C>T	NP_006173.2:p.Thr713Ile
XM_011509587.2:c.2138C>T	XP_011507889.1:p.Thr713Ile
NM_006182.4:c.2138C>T MANE Select	NP_006173.2:p.Thr713Ile
NM_001014796.3:c.2138C>T	NP_001014796.1:p.Thr713Ile
NM_001354982.2:c.2138C>T	NP_001341911.1:p.Thr713Ile
NM_001354983.2:c.2138C>T	NP_001341912.1:p.Thr713Ile