Canonical Allele Identifier: CA363617629

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164914-C-T
• MyVariant Identifiers: chr6:g.33132691C>T (hg19) ; chr6:g.33164914C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164914C>T , CM000668.2:g.33164914C>T	GRCh38
NC_000006.11:g.33132691C>T , CM000668.1:g.33132691C>T	GRCh37
NC_000006.10:g.33240669C>T	NCBI36
NG_011589.1:g.32555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.607G>A
ENST00000341947.7:c.4801G>A MANE Select	ENSP00000339915.2:p.Val1601Ile
ENST00000341947.6:c.4801G>A	ENSP00000339915.2:p.Val1601Ile
ENST00000361917.5:c.4480G>A	ENSP00000355123.1:p.Val1494Ile
ENST00000374708.8:c.4543G>A	ENSP00000363840.4:p.Val1515Ile
ENST00000477772.1:n.591G>A
NM_080679.2:c.4480G>A	NP_542410.2:p.Val1494Ile
NM_080680.2:c.4801G>A	NP_542411.2:p.Val1601Ile
NM_080681.2:c.4543G>A	NP_542412.2:p.Val1515Ile
XM_011514298.1:c.3955G>A	XP_011512600.1:p.Val1319Ile
XM_011514299.1:c.4087G>A	XP_011512601.1:p.Val1363Ile
XM_011514300.1:c.3907G>A	XP_011512602.1:p.Val1303Ile
XM_011514301.1:c.3844G>A	XP_011512603.1:p.Val1282Ile
XM_011514302.1:c.3688G>A	XP_011512604.1:p.Val1230Ile
XM_011514299.2:c.4087G>A	XP_011512601.1:p.Val1363Ile
XM_011514300.2:c.3907G>A	XP_011512602.1:p.Val1303Ile
XM_011514302.2:c.3688G>A	XP_011512604.1:p.Val1230Ile
XM_017010250.1:c.4801G>A	XP_016865739.1:p.Val1601Ile
XM_017010251.2:c.3619G>A	XP_016865740.1:p.Val1207Ile
NM_080680.3:c.4801G>A MANE Select	NP_542411.2:p.Val1601Ile
NM_080681.3:c.4543G>A	NP_542412.2:p.Val1515Ile
NM_080679.3:c.4480G>A	NP_542410.2:p.Val1494Ile