Canonical Allele Identifier: CA2678226369

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164356-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164357dup , CM000668.2:g.33164357dup	GRCh38
NC_000006.11:g.33132134dup , CM000668.1:g.33132134dup	GRCh37
NC_000006.10:g.33240112dup	NCBI36
NG_011589.1:g.33112dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.786dup
ENST00000341947.7:c.4980dup MANE Select	ENSP00000339915.2:p.Asp1661Ter
ENST00000341947.6:c.4980dup	ENSP00000339915.2:p.Asp1661Ter
ENST00000361917.5:c.4659dup	ENSP00000355123.1:p.Asp1554Ter
ENST00000374708.8:c.4722dup	ENSP00000363840.4:p.Asp1575Ter
ENST00000477772.1:n.770dup
NM_080679.2:c.4659dup	NP_542410.2:p.Asp1554Ter
NM_080680.2:c.4980dup	NP_542411.2:p.Asp1661Ter
NM_080681.2:c.4722dup	NP_542412.2:p.Asp1575Ter
XM_011514298.1:c.4134dup	XP_011512600.1:p.Asp1379Ter
XM_011514299.1:c.4266dup	XP_011512601.1:p.Asp1423Ter
XM_011514300.1:c.4086dup	XP_011512602.1:p.Asp1363Ter
XM_011514301.1:c.4023dup	XP_011512603.1:p.Asp1342Ter
XM_011514302.1:c.3867dup	XP_011512604.1:p.Asp1290Ter
XM_011514299.2:c.4266dup	XP_011512601.1:p.Asp1423Ter
XM_011514300.2:c.4086dup	XP_011512602.1:p.Asp1363Ter
XM_011514302.2:c.3867dup	XP_011512604.1:p.Asp1290Ter
XM_017010250.1:c.4980dup	XP_016865739.1:p.Asp1661Ter
XM_017010251.2:c.3798dup	XP_016865740.1:p.Asp1267Ter
NM_080680.3:c.4980dup MANE Select	NP_542411.2:p.Asp1661Ter
NM_080681.3:c.4722dup	NP_542412.2:p.Asp1575Ter
NM_080679.3:c.4659dup	NP_542410.2:p.Asp1554Ter