Canonical Allele Identifier: CA2678226383

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 2753339
• ClinVar RCV Id: RCV003566836
• gnomAD v4: 6-33164488-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164491dup , CM000668.2:g.33164491dup	GRCh38
NC_000006.11:g.33132268dup , CM000668.1:g.33132268dup	GRCh37
NC_000006.10:g.33240246dup	NCBI36
NG_011589.1:g.32980dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.670-16dup
ENST00000341947.7:c.4864-16dup MANE Select	ENSP00000339915.2:n.4864-16dup
ENST00000341947.6:c.4864-16dup	ENSP00000339915.2:n.4864-16dup
ENST00000361917.5:c.4543-16dup	ENSP00000355123.1:n.4543-16dup
ENST00000374708.8:c.4606-16dup	ENSP00000363840.4:n.4606-16dup
ENST00000477772.1:n.654-16dup
NM_080679.2:c.4543-16dup	NP_542410.2:n.4543-16dup
NM_080680.2:c.4864-16dup	NP_542411.2:n.4864-16dup
NM_080681.2:c.4606-16dup	NP_542412.2:n.4606-16dup
XM_011514298.1:c.4018-16dup	XP_011512600.1:n.4018-16dup
XM_011514299.1:c.4150-16dup	XP_011512601.1:n.4150-16dup
XM_011514300.1:c.3970-16dup	XP_011512602.1:n.3970-16dup
XM_011514301.1:c.3907-16dup	XP_011512603.1:n.3907-16dup
XM_011514302.1:c.3751-16dup	XP_011512604.1:n.3751-16dup
XM_011514299.2:c.4150-16dup	XP_011512601.1:n.4150-16dup
XM_011514300.2:c.3970-16dup	XP_011512602.1:n.3970-16dup
XM_011514302.2:c.3751-16dup	XP_011512604.1:n.3751-16dup
XM_017010250.1:c.4864-16dup	XP_016865739.1:n.4864-16dup
XM_017010251.2:c.3682-16dup	XP_016865740.1:n.3682-16dup
NM_080680.3:c.4864-16dup MANE Select	NP_542411.2:n.4864-16dup
NM_080681.3:c.4606-16dup	NP_542412.2:n.4606-16dup
NM_080679.3:c.4543-16dup	NP_542410.2:n.4543-16dup