Canonical Allele Identifier: CA1217541

Gene: DDR2

Linked Data

• ClinVar Variation Id: 259930
• ClinVar RCV Id: RCV000246308 ; RCV001250953 ; RCV001660291 ; RCV001660292 ; RCV001722324
• dbSNP Id: rs1780003
• ExAC: 1:162740327 T / C
• gnomAD v2: 1-162740327-T-C
• gnomAD v3: 1-162770537-T-C
• gnomAD v4: 1-162770537-T-C
• MyVariant Identifiers: chr1:g.162740327T>C (hg19) ; chr1:g.162770537T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.162770537T>C , CM000663.2:g.162770537T>C	GRCh38
NC_000001.10:g.162740327T>C , CM000663.1:g.162740327T>C	GRCh37
NC_000001.9:g.161006951T>C	NCBI36
NG_016290.1:g.143100T>C
NG_016290.2:g.144325T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367921.8:c.1504+25T>C MANE Select	ENSP00000356898.3:n.1504+25T>C
ENST00000446985.6:c.1504+25T>C	ENSP00000400309.2:n.1504+25T>C
ENST00000672207.1:n.1890+25T>C
ENST00000367921.7:c.1504+25T>C	ENSP00000356898.3:n.1504+25T>C
ENST00000367922.7:c.1504+25T>C	ENSP00000356899.2:n.1504+25T>C
ENST00000433757.1:c.281+25T>C
ENST00000458105.1:c.359T>C	ENSP00000417030.1:p.Val120Ala
NM_001014796.1:c.1504+25T>C	NP_001014796.1:n.1504+25T>C
NM_006182.2:c.1504+25T>C	NP_006173.2:n.1504+25T>C
XM_006711344.2:c.1504+25T>C	XP_006711407.1:n.1504+25T>C
XM_011509586.1:c.1504+25T>C	XP_011507888.1:n.1504+25T>C
XM_011509587.1:c.1504+25T>C	XP_011507889.1:n.1504+25T>C
XM_011509588.1:c.1529T>C	XP_011507890.1:p.Val510Ala
XM_011509589.1:c.1529T>C	XP_011507891.1:p.Val510Ala
NM_001014796.2:c.1504+25T>C	NP_001014796.1:n.1504+25T>C
NM_001354982.1:c.1504+25T>C	NP_001341911.1:n.1504+25T>C
NM_001354983.1:c.1504+25T>C	NP_001341912.1:n.1504+25T>C
NM_006182.3:c.1504+25T>C	NP_006173.2:n.1504+25T>C
XM_011509587.2:c.1504+25T>C	XP_011507889.1:n.1504+25T>C
XM_011509588.3:c.1529T>C	XP_011507890.1:p.Val510Ala
NM_006182.4:c.1504+25T>C MANE Select	NP_006173.2:n.1504+25T>C
NM_001014796.3:c.1504+25T>C	NP_001014796.1:n.1504+25T>C
NM_001354982.2:c.1504+25T>C	NP_001341911.1:n.1504+25T>C
NM_001354983.2:c.1504+25T>C	NP_001341912.1:n.1504+25T>C