Canonical Allele Identifier: CA363616551

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164446-G-T
• MyVariant Identifiers: chr6:g.33132223G>T (hg19) ; chr6:g.33164446G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164446G>T , CM000668.2:g.33164446G>T	GRCh38
NC_000006.11:g.33132223G>T , CM000668.1:g.33132223G>T	GRCh37
NC_000006.10:g.33240201G>T	NCBI36
NG_011589.1:g.33023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.697C>A
ENST00000341947.7:c.4891C>A MANE Select	ENSP00000339915.2:p.Pro1631Thr
ENST00000341947.6:c.4891C>A	ENSP00000339915.2:p.Pro1631Thr
ENST00000361917.5:c.4570C>A	ENSP00000355123.1:p.Pro1524Thr
ENST00000374708.8:c.4633C>A	ENSP00000363840.4:p.Pro1545Thr
ENST00000477772.1:n.681C>A
NM_080679.2:c.4570C>A	NP_542410.2:p.Pro1524Thr
NM_080680.2:c.4891C>A	NP_542411.2:p.Pro1631Thr
NM_080681.2:c.4633C>A	NP_542412.2:p.Pro1545Thr
XM_011514298.1:c.4045C>A	XP_011512600.1:p.Pro1349Thr
XM_011514299.1:c.4177C>A	XP_011512601.1:p.Pro1393Thr
XM_011514300.1:c.3997C>A	XP_011512602.1:p.Pro1333Thr
XM_011514301.1:c.3934C>A	XP_011512603.1:p.Pro1312Thr
XM_011514302.1:c.3778C>A	XP_011512604.1:p.Pro1260Thr
XM_011514299.2:c.4177C>A	XP_011512601.1:p.Pro1393Thr
XM_011514300.2:c.3997C>A	XP_011512602.1:p.Pro1333Thr
XM_011514302.2:c.3778C>A	XP_011512604.1:p.Pro1260Thr
XM_017010250.1:c.4891C>A	XP_016865739.1:p.Pro1631Thr
XM_017010251.2:c.3709C>A	XP_016865740.1:p.Pro1237Thr
NM_080680.3:c.4891C>A MANE Select	NP_542411.2:p.Pro1631Thr
NM_080681.3:c.4633C>A	NP_542412.2:p.Pro1545Thr
NM_080679.3:c.4570C>A	NP_542410.2:p.Pro1524Thr