Canonical Allele Identifier: CA604847663

Gene: COL2A1

Linked Data

• dbSNP Id: rs1316949978
• gnomAD v2: 12-48366795-A-ATTGATTATTT
• gnomAD v3: 12-47973012-A-ATTGATTATTT
• gnomAD v4: 12-47973012-A-ATTGATTATTT
• MyVariant Identifiers: chr12:g.48366795_48366796insTTGATTATTT (hg19) ; chr12:g.47973012_47973013insTTGATTATTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47973012_47973013insTTGATTATTT , CM000674.2:g.47973012_47973013insTTGATTATTT	GRCh38
NC_000012.11:g.48366795_48366796insTTGATTATTT , CM000674.1:g.48366795_48366796insTTGATTATTT	GRCh37
NC_000012.10:g.46653062_46653063insTTGATTATTT	NCBI36
NG_008072.1:g.36490_36491insAAATAATCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000380518.8:c.*394_*395insAAATAATCAA MANE Select	ENSP00000369889.3:n.*394_*395insAAATAATCAA
ENST00000380518.7:c.*394_*395insAAATAATCAA	ENSP00000369889.3:n.*394_*395insAAATAATCAA
NM_001844.4:c.*394_*395insAAATAATCAA	NP_001835.3:n.*394_*395insAAATAATCAA
NM_033150.2:c.*394_*395insAAATAATCAA	NP_149162.2:n.*394_*395insAAATAATCAA
XM_006719242.2:c.*394_*395insAAATAATCAA	XP_006719305.2:n.*394_*395insAAATAATCAA
XM_011537928.1:c.*394_*395insAAATAATCAA	XP_011536230.1:n.*394_*395insAAATAATCAA
XM_011537929.1:c.*394_*395insAAATAATCAA	XP_011536231.1:n.*394_*395insAAATAATCAA
XM_011537930.1:c.*394_*395insAAATAATCAA	XP_011536232.1:n.*394_*395insAAATAATCAA
XM_011537931.1:c.*394_*395insAAATAATCAA	XP_011536233.1:n.*394_*395insAAATAATCAA
XM_011537932.1:c.*394_*395insAAATAATCAA	XP_011536234.1:n.*394_*395insAAATAATCAA
XM_011537933.1:c.*394_*395insAAATAATCAA	XP_011536235.1:n.*394_*395insAAATAATCAA
XM_011537934.1:c.*394_*395insAAATAATCAA	XP_011536236.1:n.*394_*395insAAATAATCAA
XM_011537935.1:c.*394_*395insAAATAATCAA	XP_011536237.1:n.*394_*395insAAATAATCAA
XM_017018828.1:c.*394_*395insAAATAATCAA	XP_016874317.1:n.*394_*395insAAATAATCAA
XM_017018829.1:c.*394_*395insAAATAATCAA	XP_016874318.1:n.*394_*395insAAATAATCAA
XM_017018830.1:c.*394_*395insAAATAATCAA	XP_016874319.1:n.*394_*395insAAATAATCAA
XM_017018831.2:c.*394_*395insAAATAATCAA	XP_016874320.1:n.*394_*395insAAATAATCAA
NM_001844.5:c.*394_*395insAAATAATCAA MANE Select	NP_001835.3:n.*394_*395insAAATAATCAA
NM_033150.3:c.*394_*395insAAATAATCAA	NP_149162.2:n.*394_*395insAAATAATCAA