Canonical Allele Identifier: CA363617459

Gene: COL11A2

Linked Data

• MyVariant Identifiers: chr6:g.33132654A>T (hg19) ; chr6:g.33164877A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164877A>T , CM000668.2:g.33164877A>T	GRCh38
NC_000006.11:g.33132654A>T , CM000668.1:g.33132654A>T	GRCh37
NC_000006.10:g.33240632A>T	NCBI36
NG_011589.1:g.32592T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.644T>A
ENST00000341947.7:c.4838T>A MANE Select	ENSP00000339915.2:p.Val1613Glu
ENST00000341947.6:c.4838T>A	ENSP00000339915.2:p.Val1613Glu
ENST00000361917.5:c.4517T>A	ENSP00000355123.1:p.Val1506Glu
ENST00000374708.8:c.4580T>A	ENSP00000363840.4:p.Val1527Glu
ENST00000477772.1:n.628T>A
NM_080679.2:c.4517T>A	NP_542410.2:p.Val1506Glu
NM_080680.2:c.4838T>A	NP_542411.2:p.Val1613Glu
NM_080681.2:c.4580T>A	NP_542412.2:p.Val1527Glu
XM_011514298.1:c.3992T>A	XP_011512600.1:p.Val1331Glu
XM_011514299.1:c.4124T>A	XP_011512601.1:p.Val1375Glu
XM_011514300.1:c.3944T>A	XP_011512602.1:p.Val1315Glu
XM_011514301.1:c.3881T>A	XP_011512603.1:p.Val1294Glu
XM_011514302.1:c.3725T>A	XP_011512604.1:p.Val1242Glu
XM_011514299.2:c.4124T>A	XP_011512601.1:p.Val1375Glu
XM_011514300.2:c.3944T>A	XP_011512602.1:p.Val1315Glu
XM_011514302.2:c.3725T>A	XP_011512604.1:p.Val1242Glu
XM_017010250.1:c.4838T>A	XP_016865739.1:p.Val1613Glu
XM_017010251.2:c.3656T>A	XP_016865740.1:p.Val1219Glu
NM_080680.3:c.4838T>A MANE Select	NP_542411.2:p.Val1613Glu
NM_080681.3:c.4580T>A	NP_542412.2:p.Val1527Glu
NM_080679.3:c.4517T>A	NP_542410.2:p.Val1506Glu