Canonical Allele Identifier: CA8495411

Gene: CCL2

Linked Data

• dbSNP Id: rs774898999
• ExAC: 17:32582422 TC / T
• gnomAD v2: 17-32582422-TC-T
• gnomAD v3: 17-34255403-TC-T
• gnomAD v4: 17-34255403-TC-T
• MyVariant Identifiers: chr17:g.32582423del (hg19) ; chr17:g.34255404del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.34255407del , CM000679.2:g.34255407del	GRCh38
NC_000017.10:g.32582426del , CM000679.1:g.32582426del	GRCh37
NC_000017.9:g.29606539del	NCBI36
NG_012123.1:g.5131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580907.6:c.58del	ENSP00000462156.1:p.Gln20LysfsTer?
ENST00000624362.2:n.123del
ENST00000225831.4:c.58del MANE Select	ENSP00000225831.4:p.Gln20LysfsTer?
ENST00000580907.5:c.58del	ENSP00000462156.1:p.Gln20LysfsTer?
ENST00000624362.1:n.190del
NM_002982.3:c.58del	NP_002973.1:p.Gln20LysfsTer?
NM_002982.4:c.58del MANE Select	NP_002973.1:p.Gln20LysfsTer?