Canonical Allele Identifier: CA3749952

Gene: COL11A2

Linked Data

• dbSNP Id: rs761764260
• ExAC: 6:33132184 T / TG
• gnomAD v2: 6-33132184-T-TG
• gnomAD v4: 6-33164407-T-TG
• MyVariant Identifiers: chr6:g.33132184_33132185insG (hg19) ; chr6:g.33164407_33164408insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164408dup , CM000668.2:g.33164408dup	GRCh38
NC_000006.11:g.33132185dup , CM000668.1:g.33132185dup	GRCh37
NC_000006.10:g.33240163dup	NCBI36
NG_011589.1:g.33061dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.735dup
ENST00000341947.7:c.4929dup MANE Select	ENSP00000339915.2:p.Ser1644GlnfsTer18
ENST00000341947.6:c.4929dup	ENSP00000339915.2:p.Ser1644GlnfsTer18
ENST00000361917.5:c.4608dup	ENSP00000355123.1:p.Ser1537GlnfsTer18
ENST00000374708.8:c.4671dup	ENSP00000363840.4:p.Ser1558GlnfsTer18
ENST00000477772.1:n.719dup
NM_080679.2:c.4608dup	NP_542410.2:p.Ser1537GlnfsTer18
NM_080680.2:c.4929dup	NP_542411.2:p.Ser1644GlnfsTer18
NM_080681.2:c.4671dup	NP_542412.2:p.Ser1558GlnfsTer18
XM_011514298.1:c.4083dup	XP_011512600.1:p.Ser1362GlnfsTer18
XM_011514299.1:c.4215dup	XP_011512601.1:p.Ser1406GlnfsTer18
XM_011514300.1:c.4035dup	XP_011512602.1:p.Ser1346GlnfsTer18
XM_011514301.1:c.3972dup	XP_011512603.1:p.Ser1325GlnfsTer18
XM_011514302.1:c.3816dup	XP_011512604.1:p.Ser1273GlnfsTer18
XM_011514299.2:c.4215dup	XP_011512601.1:p.Ser1406GlnfsTer18
XM_011514300.2:c.4035dup	XP_011512602.1:p.Ser1346GlnfsTer18
XM_011514302.2:c.3816dup	XP_011512604.1:p.Ser1273GlnfsTer18
XM_017010250.1:c.4929dup	XP_016865739.1:p.Ser1644GlnfsTer18
XM_017010251.2:c.3747dup	XP_016865740.1:p.Ser1250GlnfsTer18
NM_080680.3:c.4929dup MANE Select	NP_542411.2:p.Ser1644GlnfsTer18
NM_080681.3:c.4671dup	NP_542412.2:p.Ser1558GlnfsTer18
NM_080679.3:c.4608dup	NP_542410.2:p.Ser1537GlnfsTer18