Canonical Allele Identifier: CA3751500

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 497724
• ClinVar RCV Id: RCV000592394 ; RCV000778790 ; RCV001195605 ; RCV001257368 ; RCV001814194 ; RCV002250665
• dbSNP Id: rs748440351
• ExAC: 6:33152074 T / TG
• gnomAD v2: 6-33152074-T-TG
• gnomAD v3: 6-33184297-T-TG
• gnomAD v4: 6-33184297-T-TG
• COSMIC: COSM4611837
• MyVariant Identifiers: chr6:g.33152075dup (hg19) ; chr6:g.33152081_33152082insG (hg19) ; chr6:g.33152075_33152076insG (hg19) ; chr6:g.33152074_33152075insG (hg19) ; chr6:g.33184298dup (hg38) ; chr6:g.33184298_33184299insG (hg38) ; chr6:g.33184297_33184298insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33184304dup , CM000668.2:g.33184304dup	GRCh38
NC_000006.11:g.33152081dup , CM000668.1:g.33152081dup	GRCh37
NC_000006.10:g.33260059dup	NCBI36
NG_011589.1:g.13171dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000341947.7:c.966dup MANE Select	ENSP00000339915.2:p.Thr323HisfsTer19
ENST00000341947.6:c.966dup	ENSP00000339915.2:p.Thr323HisfsTer19
ENST00000361917.5:c.798+2329dup	ENSP00000355123.1:n.798+2329dup
ENST00000374708.8:c.861+694dup	ENSP00000363840.4:n.861+694dup
ENST00000457788.5:c.966dup	ENSP00000405520.1:p.Thr323HisfsTer19
NM_080679.2:c.798+2329dup	NP_542410.2:n.798+2329dup
NM_080680.2:c.966dup	NP_542411.2:p.Thr323HisfsTer19
NM_080681.2:c.861+694dup	NP_542412.2:n.861+694dup
XM_011514298.1:c.120dup	XP_011512600.1:p.Thr41HisfsTer19
XM_011514299.1:c.252dup	XP_011512601.1:p.Thr85HisfsTer19
XM_011514300.1:c.225+694dup	XP_011512602.1:n.225+694dup
XM_011514301.1:c.162+986dup	XP_011512603.1:n.162+986dup
XM_011514299.2:c.252dup	XP_011512601.1:p.Thr85HisfsTer19
XM_011514300.2:c.225+694dup	XP_011512602.1:n.225+694dup
XM_017010250.1:c.966dup	XP_016865739.1:p.Thr323HisfsTer19
NM_080680.3:c.966dup MANE Select	NP_542411.2:p.Thr323HisfsTer19
NM_080681.3:c.861+694dup	NP_542412.2:n.861+694dup
NM_080679.3:c.798+2329dup	NP_542410.2:n.798+2329dup